ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.193G>A (p.Val65Ile)

gnomAD frequency: 0.00004  dbSNP: rs541903338
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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 RCV002038486 SCV002310623 uncertain significance Aicardi-Goutieres syndrome 2 2022-01-14 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 65 of the RNASEH2B protein (p.Val65Ile). This variant is present in population databases (rs541903338, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RNASEH2B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004656843 SCV005156391 uncertain significance Inborn genetic diseases 2024-04-06 criteria provided, single submitter clinical testing The c.193G>A (p.V65I) alteration is located in exon 3 (coding exon 3) of the RNASEH2B gene. This alteration results from a G to A substitution at nucleotide position 193, causing the valine (V) at amino acid position 65 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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