ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.152C>T (p.Ala51Val)

gnomAD frequency: 0.00005  dbSNP: rs727504039
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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) RCV000153563 SCV000203098 uncertain significance not provided 2016-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316969 SCV000850110 likely benign Inborn genetic diseases 2022-01-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics RCV000764867 SCV000896023 uncertain significance Nance-Horan syndrome; Cataract 40 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001349017 SCV001543344 uncertain significance Nance-Horan syndrome 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 51 of the NHS protein (p.Ala51Val). This variant is present in population databases (rs727504039, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with NHS-related conditions. ClinVar contains an entry for this variant (Variation ID: 167351). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine 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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