ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31838C>A (p.Pro10613Gln)

gnomAD frequency: 0.00001  dbSNP: rs186731979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223696 SCV002501531 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529104 SCV004106148 uncertain significance TTN-related disorder 2022-08-29 criteria provided, single submitter clinical testing The TTN c.31838C>A variant is predicted to result in the amino acid substitution p.Pro10613Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0059% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179554548-G-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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