ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2791G>A (p.Glu931Lys) (rs1131691514)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493293 SCV000582277 likely pathogenic not provided 2015-09-16 criteria provided, single submitter clinical testing The E931K variant in the MYH7 gene has been reported in association with HCM in two individuals and was absent from 400 control alleles; however, no additional clinical information or segregation analysis was provided (Van Driest et al., 2004; Berge et al., 2014). The E931K 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. Variants in nearby residues (E929K, E930Q, E930K, M932K, E935K) have been reported in HGMD in association with HCM (Stenson et al., 2014), further supporting the functional importance of this region of the protein. Furthermore, the E931K variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.Therefore, this variant is a strong candidate for a pathogenic variant however the possibility that it is a benign variant cannot be excluded.

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