ClinVar Miner

Submissions for variant NM_138459.5(NUS1):c.97T>C (p.Trp33Arg)

gnomAD frequency: 0.00002  dbSNP: rs1287068904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002308698 SCV002600799 uncertain significance not specified 2022-10-28 criteria provided, single submitter clinical testing Variant summary: NUS1 c.97T>C (p.Trp33Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.9e-05 in 156528 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.97T>C in individuals affected with NUS1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003775021 SCV004678667 uncertain significance Congenital disorder of glycosylation, type IAA 2023-08-10 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. This variant has not been reported in the literature in individuals affected with NUS1-related conditions. This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 33 of the NUS1 protein (p.Trp33Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. ClinVar contains an entry for this variant (Variation ID: 1723422).

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