ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.518C>A (p.Thr173Asn)

dbSNP: rs113941605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035641 SCV000059292 uncertain significance not specified 2016-09-26 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV003586132 SCV004294822 uncertain significance Hypertrophic cardiomyopathy 2023-03-16 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. 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: 42766). This missense change has been observed in individual(s) with clinical features of MYBPC3-related conditions (PMID: 27532257, 33782553). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 173 of the MYBPC3 protein (p.Thr173Asn).

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