Total submissions: 3
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, |
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. |