ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1857G>C (p.Glu619Asp)

dbSNP: rs763030622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004087480 SCV003545141 uncertain significance Cardiovascular phenotype 2021-09-27 criteria provided, single submitter clinical testing The c.1857G>C (p.E619D) alteration is located in exon 19 (coding exon 19) of the MYBPC3 gene. This alteration results from a G to C substitution at nucleotide position 1857, causing the glutamic acid (E) at amino acid position 619 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003748452 SCV004557303 uncertain significance Hypertrophic cardiomyopathy 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 619 of the MYBPC3 protein (p.Glu619Asp). This variant is not present in population databases (gnomAD no frequency). 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: 2218863). 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. 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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