ClinVar Miner

Submissions for variant NM_032193.4(RNASEH2C):c.233G>C (p.Gly78Ala)

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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 RCV003050866 SCV003444755 uncertain significance Aicardi-Goutieres syndrome 3 2022-06-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 78 of the RNASEH2C protein (p.Gly78Ala). This variant is present in population databases (rs558325124, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RNASEH2C-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Ambry Genetics RCV004070182 SCV005015112 uncertain significance Inborn genetic diseases 2024-01-16 criteria provided, single submitter clinical testing The c.233G>C (p.G78A) alteration is located in exon 2 (coding exon 2) of the RNASEH2C gene. This alteration results from a G to C substitution at nucleotide position 233, causing the glycine (G) at amino acid position 78 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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