ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19697G>C (p.Gly6566Ala)

gnomAD frequency: 0.00006  dbSNP: rs1052515116
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643401 SCV000765088 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140001 SCV003826550 uncertain significance not provided 2020-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533359 SCV004118188 uncertain significance TTN-related disorder 2023-03-14 criteria provided, single submitter clinical testing The TTN c.19697G>C variant is predicted to result in the amino acid substitution p.Gly6566Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.034% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179592854-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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