NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Feb 13, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr)]

NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr)

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr)
  • NC_000002.12:g.178584921C>T
  • NG_011618.3:g.250882G>A
  • NG_051363.1:g.67095C>T
  • NM_001256850.1:c.59797G>A
  • NM_001267550.2:c.64720G>AMANE SELECT
  • NM_003319.4:c.37525G>A
  • NM_133378.4:c.57016G>A
  • NM_133432.3:c.37900G>A
  • NM_133437.4:c.38101G>A
  • NP_001243779.1:p.Ala19933Thr
  • NP_001254479.2:p.Ala21574Thr
  • NP_003310.4:p.Ala12509Thr
  • NP_596869.4:p.Ala19006Thr
  • NP_597676.3:p.Ala12634Thr
  • NP_597681.4:p.Ala12701Thr
  • LRG_391t1:c.64720G>A
  • LRG_391:g.250882G>A
  • NC_000002.11:g.179449648C>T
  • NM_001267550.1:c.64720G>A
  • NR_038272.1:n.3116C>T
Protein change:
dbSNP: rs578085621
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001256850.1:c.59797G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.64720G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.37525G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.57016G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.37900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.38101G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038272.1:n.3116C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000714786GeneDxcriteria provided, single submitter
Likely benign
(Feb 13, 2019)
germlineclinical testing

Citation Link,

SCV001146460Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Feb 4, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing



A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

Details of each submission

From GeneDx, SCV000714786.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV001146460.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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