ClinVar Miner

Submissions for variant NM_003673.4(TCAP):c.259C>T (p.Arg87Trp)

gnomAD frequency: 0.00002  dbSNP: rs777518512
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University of Leuven RCV000497464 SCV000579578 likely benign Primary dilated cardiomyopathy 2017-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001348399 SCV001542700 uncertain significance Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy 2022-08-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 87 of the TCAP protein (p.Arg87Trp). This variant is present in population databases (rs777518512, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TCAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 202102). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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