ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2897A>T (p.Glu966Val)

dbSNP: rs730880579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158194 SCV000208129 uncertain significance not provided 2017-05-21 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYBPC3 gene. The E966V variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E966V variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, splice prediction algorithms predict that this variant creates a new cryptic splice donor site in exon 27 upstream of the natural splice donor site for intron 27, which may lead to abnormal gene splicing. However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.
Ambry Genetics RCV002433695 SCV002750864 uncertain significance Cardiovascular phenotype 2023-05-25 criteria provided, single submitter clinical testing The p.E966V variant (also known as c.2897A>T), located in coding exon 27 of the MYBPC3 gene, results from an A to T substitution at nucleotide position 2897. The glutamic acid at codon 966 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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