ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.565C>T (p.Pro189Ser)

gnomAD frequency: 0.00001  dbSNP: rs782376691
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504268 SCV000596115 uncertain significance not specified 2015-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003727744 SCV004536027 uncertain significance not provided 2022-10-27 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 436069). This variant has not been reported in the literature in individuals affected with NSDHL-related conditions. This variant is present in population databases (rs782376691, gnomAD 0.002%), including at least one homozygous and/or hemizygous individual. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 189 of the NSDHL protein (p.Pro189Ser).
Fulgent Genetics, Fulgent Genetics RCV005044756 SCV005683051 uncertain significance Child syndrome; CK syndrome 2024-02-07 criteria provided, single submitter clinical testing

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