NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) AND not provided

Germline classification:: Likely benign (5 submissions)
Last evaluated:: Jun 1, 2026
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000230180.54

Allele description [Variation Report for NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)]

NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)

Other names:

p.S20726P:TCC>CCC; p.Ser20726Pro

HGVS:

NC_000002.12:g.178580188A>G
NG_011618.3:g.255615T>C
NG_051363.1:g.62362A>G
NM_001256850.1:c.62176T>C
NM_001267550.2:c.67099T>CMANE SELECT
NM_003319.4:c.39904T>C
NM_133378.4:c.59395T>C
NM_133432.3:c.40279T>C
NM_133437.4:c.40480T>C
NP_001243779.1:p.Ser20726Pro
NP_001254479.2:p.Ser22367Pro
NP_003310.4:p.Ser13302Pro
NP_596869.4:p.Ser19799Pro
NP_597676.3:p.Ser13427Pro
NP_597681.4:p.Ser13494Pro
LRG_391t1:c.67099T>C
LRG_391:g.255615T>C
NC_000002.11:g.179444915A>G
NM_001267550.1:c.67099T>C
c.59395T>C

Protein change:

S13302P

Links:

dbSNP: rs72646873

Molecular consequence:

NM_001256850.1:c.62176T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.67099T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.39904T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.59395T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.40279T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.40480T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001152797	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jun 1, 2026)	germline	clinical testing	Citation Link,
SCV001927638	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001957102	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001965520	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV007332655	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Likely Benign (Jul 22, 2025)	germline	clinical testing	Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	26	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001152797.40

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	26	not provided	not provided	clinical testing	not provided

Description

TTN: BP4, BS2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		26	not provided	not provided	not provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001927638.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001957102.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001965520.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV007332655.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 27, 2026

ClinVar

Relating variation to medicine

NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) AND not provided

Allele description [Variation Report for NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)]

NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001152797.40

Description

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001927638.1

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001957102.1

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001965520.1

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV007332655.1