ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.773C>T (p.Ser258Leu)

gnomAD frequency: 0.00031  dbSNP: rs373717198
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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) RCV000179949 SCV000232270 uncertain significance not provided 2014-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179949 SCV002406895 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002515287 SCV003655434 likely benign Inborn genetic diseases 2022-07-12 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.
GeneDx RCV000179949 SCV005382890 uncertain significance not provided 2024-01-19 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

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