ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.80T>G (p.Val27Gly)

dbSNP: rs770136482
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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 RCV001213476 SCV001385108 uncertain significance Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2019-08-26 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This sequence change replaces valine with glycine at codon 27 of the MVK protein (p.Val27Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MVK-related conditions. 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 RCV002561815 SCV003667670 uncertain significance Inborn genetic diseases 2022-12-27 criteria provided, single submitter clinical testing The c.80T>G (p.V27G) alteration is located in exon 3 (coding exon 2) of the MVK gene. This alteration results from a T to G substitution at nucleotide position 80, causing the valine (V) at amino acid position 27 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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