ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27425C>T (p.Ser9142Leu)

gnomAD frequency: 0.00001  dbSNP: rs781609380
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534555 SCV000642902 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-12 criteria provided, single submitter clinical testing
GeneDx RCV001562487 SCV001785258 uncertain significance not provided 2020-07-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
Preventiongenetics, part of Exact Sciences RCV003409794 SCV004116362 uncertain significance TTN-related condition 2022-09-07 criteria provided, single submitter clinical testing The TTN c.27425C>T variant is predicted to result in the amino acid substitution p.Ser9142Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179577224-G-A). 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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