NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(2) (Last evaluated: Jun 17, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:

Allele description [Variation Report for NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)]

NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)

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.66430G>A (p.Ala22144Thr)
  • NC_000002.12:g.178581939C>T
  • NG_011618.3:g.253864G>A
  • NG_051363.1:g.64113C>T
  • NM_001256850.1:c.61507G>A
  • NM_001267550.2:c.66430G>AMANE SELECT
  • NM_003319.4:c.39235G>A
  • NM_133378.4:c.58726G>A
  • NM_133432.3:c.39610G>A
  • NM_133437.4:c.39811G>A
  • NP_001243779.1:p.Ala20503Thr
  • NP_001254479.2:p.Ala22144Thr
  • NP_003310.4:p.Ala13079Thr
  • NP_596869.4:p.Ala19576Thr
  • NP_597676.3:p.Ala13204Thr
  • NP_597681.4:p.Ala13271Thr
  • LRG_391:g.253864G>A
  • NC_000002.11:g.179446666C>T
  • p.Ala20503Thr
Protein change:
dbSNP: rs183276016
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001256850.1:c.61507G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.66430G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.39235G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.58726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.39610G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.39811G>A - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000337254EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Aug 13, 2018)
germlineclinical testing

Citation Link,

SCV000980925GeneDxcriteria provided, single submitter
Likely benign
(Apr 25, 2018)
germlineclinical testing

Citation Link,

SCV001713226Mayo Clinic Laboratories, Mayo Cliniccriteria provided, single submitter
Uncertain significance
(Jun 17, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown5not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing



Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000337254.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

From GeneDx, SCV000980925.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV001713226.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 6, 2021

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