ClinVar Miner

Submissions for variant NM_004055.5(CAPN5):c.698A>G (p.Lys233Arg)

gnomAD frequency: 0.00011  dbSNP: rs782458870
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925548 SCV002184443 uncertain significance not provided 2023-05-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1412803). This variant has not been reported in the literature in individuals affected with CAPN5-related conditions. This variant is present in population databases (rs782458870, gnomAD 0.03%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 233 of the CAPN5 protein (p.Lys233Arg).

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