ClinVar Miner

Submissions for variant NM_017653.5(DYM):c.259G>A (p.Glu87Lys) (rs120074164)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000003340 SCV000915806 uncertain significance Smith-McCort dysplasia 1 2018-10-29 criteria provided, single submitter clinical testing The DYM c.259G>A (p.Glu87Lys) variant is a missense variant that has been reported in one study, in which it is found in a compound heterozygous state with a splice acceptor variant in a total of seven individuals from two Guamanian families. All seven individuals were diagnosed with Smith-McCort Dysplasia (Cohn et al. 2003). The unaffected mothers shared a common haplotype including the p.Glu87Lys variant, which is therefore likely to be an ancestral variant. The p.Glu87Lys variant is reported at a frequency of 0.000087 in the Latino population of the Exome Aggregation Consortium though this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Functional studies by Dimitrov et al. (2009) in HeLa cells demonstrated that the p.Glu87Lys variant displays a pattern of cellular localization similar to wild type and does not affect the protein stability. The Glu87 residue is conserved. The evidence for this variant is limited. The p.Glu87Lys variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for Smith-McCort Dysplasia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000003340 SCV000023498 pathogenic Smith-McCort dysplasia 1 2003-02-01 no assertion criteria provided literature only

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