ClinVar Miner

Submissions for variant NM_003489.4(NRIP1):c.717A>T (p.Arg239Ser)

gnomAD frequency: 0.00046  dbSNP: rs202001270
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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 RCV001914065 SCV002188960 uncertain significance not provided 2024-12-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 239 of the NRIP1 protein (p.Arg239Ser). This variant is present in population databases (rs202001270, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with NRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1420163). 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.
PreventionGenetics, part of Exact Sciences RCV003923367 SCV004743102 likely benign NRIP1-related disorder 2021-06-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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