ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.785C>T (p.Ala262Val)

gnomAD frequency: 0.00011  dbSNP: rs763106439
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523963 SCV000619167 uncertain significance not provided 2021-10-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000798356 SCV000937969 uncertain significance Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2025-01-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 262 of the MVK protein (p.Ala262Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MVK-related conditions. ClinVar contains an entry for this variant (Variation ID: 450567). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MVK 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000523963 SCV002541556 uncertain significance not provided 2021-04-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000798356 SCV002786994 uncertain significance Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2022-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023574 SCV004935799 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.785C>T (p.A262V) alteration is located in exon 9 (coding exon 8) of the MVK gene. This alteration results from a C to T substitution at nucleotide position 785, causing the alanine (A) at amino acid position 262 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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