ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.3340T>C (p.Ser1114Pro) (rs200901330)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151335 SCV000199309 likely benign not specified 2017-04-27 criteria provided, single submitter clinical testing p.Ser1114Pro in exon 26 of MYH9: This variant is not expected to have clinical significance because it has been identified in 0.1% (10/10128) of Ashkenazi Jewi sh chromosomes and in 0.05% (68/126464) of European chromosomes by the Genome Ag gregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs200901330) , which is higher than expected based on the estimated prevalence of 1-9/1,000,0 00 of MYH9-related disorder (www.orpha.net, MYH9-related disease, Orpha:182050).
Illumina Clinical Services Laboratory,Illumina RCV000363597 SCV000438396 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268989 SCV000438397 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000767070 SCV000617832 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing The S1114P variant in the MYH9 gene has been reported previously in association with MYH9-related disease, however, some of these individuals also harbored an additional disease causing variant on the same MYH9 allele (Heath et al., 2001; Saposnik et al., 2014). The S1114P variant is observed in 33/65,036 (0.05%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The S1114P 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 in mammals, however, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S1114P as a variant of uncertain significance.

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