ClinVar Miner

Submissions for variant NM_014625.4(NPHS2):c.17G>A (p.Arg6Gln)

gnomAD frequency: 0.00003  dbSNP: rs760885607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001098018 SCV001254355 uncertain significance Nephrotic syndrome, type 2 2018-03-16 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV002556001 SCV003450428 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 6 of the NPHS2 protein (p.Arg6Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. While this variant is present in population databases (rs760885607), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with NPHS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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.
Genome-Nilou Lab RCV001098018 SCV004049306 uncertain significance Nephrotic syndrome, type 2 2023-04-11 criteria provided, single submitter clinical testing

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