ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15175G>A (p.Asp5059Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003142984 SCV003822147 uncertain significance not provided 2023-09-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538907 SCV004116884 uncertain significance TTN-related disorder 2023-10-09 criteria provided, single submitter clinical testing The TTN c.15175G>A variant is predicted to result in the amino acid substitution p.Asp5059Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.052% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179599476-C-T). Although we suspect that this variant may be benign, 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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