ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.43C>T (p.Arg15Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV002463424 SCV002757865 uncertain significance Child syndrome; CK syndrome 2019-12-03 criteria provided, single submitter clinical testing
Invitae RCV003103153 SCV003493165 uncertain significance not provided 2022-04-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 15 of the NSDHL protein (p.Arg15Trp). This variant is present in population databases (rs121909832, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with NSDHL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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