ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.752C>A (p.Pro251His)

gnomAD frequency: 0.00004  dbSNP: rs779215539
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724330 SCV000231789 uncertain significance not provided 2014-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000724330 SCV000577417 uncertain significance not provided 2017-03-30 criteria provided, single submitter clinical testing The P243H variant in the MYH14 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P243H variant is observed in 2/61130 (0.003%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The P243H 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. We interpret P243H as a variant of uncertain significance.
Clinical Genetics, Academic Medical Center RCV000724330 SCV001919672 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724330 SCV001970474 uncertain significance not provided no assertion criteria provided clinical testing

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