ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3506C>T (p.Pro1169Leu)

dbSNP: rs2095878381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189510 SCV001356818 uncertain significance Cardiomyopathy 2018-11-19 criteria provided, single submitter clinical testing
Invitae RCV003770136 SCV004661763 uncertain significance Hypertrophic cardiomyopathy 2023-07-31 criteria provided, single submitter clinical testing 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 leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 926708). This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1169 of the MYBPC3 protein (p.Pro1169Leu). 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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