ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.512G>A (p.Gly171Glu)

gnomAD frequency: 0.00001  dbSNP: rs753599820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001321804 SCV001512651 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543831 SCV003548646 uncertain significance Inborn genetic diseases 2022-09-14 criteria provided, single submitter clinical testing The c.512G>A (p.G171E) alteration is located in exon 5 (coding exon 4) of the MVK gene. This alteration results from a G to A substitution at nucleotide position 512, causing the glycine (G) at amino acid position 171 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738041 SCV004564496 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing The MVK c.512G>A; p.Gly171Glu variant (rs753599820), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1021956). This variant is observed in the general population with an overall allele frequency of 0.01% (28/251330 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.394). Due to limited information, the clinical significance of this variant is uncertain at this time.

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