ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3021G>A (p.Ala1007=)

gnomAD frequency: 0.00002  dbSNP: rs147603843
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001083477 SCV000642955 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000554975 SCV001153193 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000554975 SCV001937124 likely benign not provided 2019-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438399 SCV002749602 likely benign Cardiovascular phenotype 2019-12-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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