ClinVar Miner

Submissions for variant NM_020442.6(VARS2):c.2831C>G (p.Ala944Gly)

gnomAD frequency: 0.00003  dbSNP: rs747655762
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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 RCV002013068 SCV002294585 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing 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. 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 tolerated. This variant has not been reported in the literature in individuals affected with VARS2-related conditions. This variant is present in population databases (rs747655762, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 974 of the VARS2 protein (p.Ala974Gly).
Ambry Genetics RCV002642097 SCV003725854 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.2921C>G (p.A974G) alteration is located in exon 28 (coding exon 28) of the VARS2 gene. This alteration results from a C to G substitution at nucleotide position 2921, causing the alanine (A) at amino acid position 974 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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