ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92992G>A (p.Val30998Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004534405 SCV004120847 uncertain significance TTN-related disorder 2022-09-07 criteria provided, single submitter clinical testing The TTN c.92992G>A variant is predicted to result in the amino acid substitution p.Val30998Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179413361-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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