ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.920C>T (p.Ala307Val)

gnomAD frequency: 0.00003  dbSNP: rs200843715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292810 SCV000408831 uncertain significance Smith-McCort dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333578 SCV000408832 uncertain significance Dyggve-Melchior-Clausen syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004021732 SCV004780444 uncertain significance DYM-related disorder 2024-02-14 no assertion criteria provided clinical testing The DYM c.920C>T variant is predicted to result in the amino acid substitution p.Ala307Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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