ClinVar Miner

Submissions for variant NM_138459.5(NUS1):c.3G>A (p.Met1Ile)

dbSNP: rs2481982177
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003755406 SCV004408873 uncertain significance Congenital disorder of glycosylation, type IAA 2022-10-28 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. This variant disrupts a region of the NUS1 protein in which other variant(s) (p.Gly3Arg) have been observed in individuals with NUS1-related conditions (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with NUS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the NUS1 mRNA. The next in-frame methionine is located at codon 85.
PreventionGenetics, part of Exact Sciences RCV003981043 SCV004797687 likely pathogenic NUS1-related disorder 2024-01-03 no assertion criteria provided clinical testing The NUS1 c.3G>A variant is predicted to disrupt the translation initiation site (Start loss). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Truncating variants in exon 1 of this gene have been widely reported to be pathogenic for neurodevelopmental disorders (see for example, Table S1 of Schobers et al. 2022. PubMed ID: 35710456; Zhang et al. 2021. PubMed ID: 34532305; Araki et al. 2020. PubMed ID: 32485575; Hamdan et al. 2017. PubMed ID: 29100083; Human Gene Mutation Database; https://www.ncbi.nlm.nih.gov/clinvar/). This start loss variant is interpreted as likely pathogenic.

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