ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu)

gnomAD frequency: 0.00011  dbSNP: rs151034190
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000290928 SCV000408811 uncertain significance Dyggve-Melchior-Clausen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000329327 SCV000408812 uncertain significance Smith-McCort dysplasia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001753786 SCV001986513 uncertain significance not provided 2020-06-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001753786 SCV002397273 likely benign not provided 2024-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243082 SCV003941644 likely benign Inborn genetic diseases 2023-05-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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