ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3379C>T (p.Pro1127Ser)

gnomAD frequency: 0.00001  dbSNP: rs1488618086
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185868 SCV001352177 likely benign Cardiomyopathy 2019-05-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001185868 SCV002042202 uncertain significance Cardiomyopathy 2020-09-30 criteria provided, single submitter clinical testing
Invitae RCV001862923 SCV002136207 uncertain significance Hypertrophic cardiomyopathy 2023-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1127 of the MYBPC3 protein (p.Pro1127Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 924504). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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