Submissions for variant NM_000431.4(MVK):c.238G>A (p.Val80Ile)

gnomAD frequency: 0.00259  dbSNP: rs76914224

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000726403	SCV000292633	likely benign	not provided	2020-02-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26299986)
Eurofins Ntd Llc (ga)	RCV000726403	SCV000344406	uncertain significance	not provided	2016-08-23	criteria provided, single submitter	clinical testing
Invitae	RCV001087442	SCV000766848	likely benign	Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000726403	SCV000885755	likely benign	not provided	2023-09-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001114047	SCV001271875	benign	Mevalonic aciduria	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000083830	SCV001271876	benign	Hyperimmunoglobulin D with periodic fever	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000726403	SCV002497627	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	MVK: BP4, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262660	SCV002543501	likely benign	Autoinflammatory syndrome	2020-07-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004529878	SCV004724851	likely benign	MVK-related disorder	2022-05-16	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000083830	SCV000115932	not provided	Hyperimmunoglobulin D with periodic fever		no assertion provided	not provided
Clinical Genetics, Academic Medical Center	RCV000726403	SCV001918690	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000726403	SCV001932294	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000726403	SCV001967684	likely benign	not provided		no assertion criteria provided	clinical testing