Submissions for variant NM_000431.4(MVK):c.945G>A (p.Leu315=)

gnomAD frequency: 0.00001  dbSNP: rs752469036

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000904	SCV001157987	uncertain significance	not specified	2018-11-14	criteria provided, single submitter	clinical testing	The MVK c.945G>A; p.Leu315Leu variant (rs752469036), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is present in the East Asian population with an allele frequency of 0.07% (12/18392 alleles) in the Genome Aggregation Database. This is a synonymous variant in a moderately conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic acceptor splice site. Considering available information, the clinical significance of this variant cannot be determined.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001370355	SCV001566826	likely benign	Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever	2024-03-01	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV003493769	SCV004244252	likely benign	Hyperimmunoglobulin D with periodic fever	2023-09-29	no assertion criteria provided	clinical testing