ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.904G>A (p.Gly302Arg)

gnomAD frequency: 0.00006  dbSNP: rs749003546
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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 RCV001300593 SCV001489737 uncertain significance Aicardi-Goutieres syndrome 2 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 302 of the RNASEH2B protein (p.Gly302Arg). This variant is present in population databases (rs749003546, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with RNASEH2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1003969). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV004960710 SCV005485689 uncertain significance Inborn genetic diseases 2024-12-10 criteria provided, single submitter clinical testing The c.904G>A (p.G302R) alteration is located in exon 11 (coding exon 11) of the RNASEH2B gene. This alteration results from a G to A substitution at nucleotide position 904, causing the glycine (G) at amino acid position 302 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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