ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60471C>T (p.Ala20157=)

gnomAD frequency: 0.00006  dbSNP: rs397517645
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040431 SCV000064122 likely benign not specified 2011-12-16 criteria provided, single submitter clinical testing Ala17589Ala in exon 253 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. Ala17589Ala in exon 253 of TTN (allele fre quency = n/a)
GeneDx RCV000040431 SCV000533544 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing 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.
Invitae RCV000864563 SCV001005378 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321529 SCV002606249 likely benign Cardiovascular phenotype 2020-08-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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