ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1375C>T (p.Pro459Ser)

gnomAD frequency: 0.00001  dbSNP: rs758901980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171141 SCV001333825 uncertain significance Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
Invitae RCV001306494 SCV001495868 uncertain significance Hypertrophic cardiomyopathy 2020-08-17 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 915781). This variant is present in population databases (rs758901980, ExAC 0.002%). This sequence change replaces proline with serine at codon 459 of the MYBPC3 protein (p.Pro459Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.
Fulgent Genetics, Fulgent Genetics RCV002497602 SCV002806736 uncertain significance Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2021-08-26 criteria provided, single submitter clinical testing

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