ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71140G>A (p.Glu23714Lys)

dbSNP: rs767016969
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643148 SCV000764835 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-13 criteria provided, single submitter clinical testing
GeneDx RCV002264968 SCV002546956 uncertain significance not provided 2022-01-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 535270)
Preventiongenetics, part of Exact Sciences RCV003411519 SCV004109732 uncertain significance TTN-related condition 2023-05-09 criteria provided, single submitter clinical testing The TTN c.71140G>A variant is predicted to result in the amino acid substitution p.Glu23714Lys. To our knowledge, this variant has not been reported in the literature. This variant is present in one allele out ~248,000 allele in the gnomAD database (http://gnomad.broadinstitute.org/variant/2-179439719-C-T). 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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