Submissions for variant NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)

gnomAD frequency: 0.00170  dbSNP: rs72773422

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155157	SCV000204843	likely benign	not specified	2015-01-26	criteria provided, single submitter	clinical testing	p.Leu300Met in exon 2 of MARVELD2: This variant is not expected to have clinical significance because it has been identified in 0.3% (178/67708) of European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs72773422). In addition, 3 species (chicken, duck, and lizard) have a methionine (Met) at this position despite high nearby amino acid conservation, supporting that this change may be tolerated.
Eurofins Ntd Llc (ga)	RCV000724698	SCV000227183	uncertain significance	not provided	2015-03-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000515431	SCV000611395	uncertain significance	Autosomal recessive nonsyndromic hearing loss 49	2017-05-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000724698	SCV000718726	benign	not provided	2019-11-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25885414)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000724698	SCV001034749	benign	not provided	2023-12-09	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000724698	SCV001144473	uncertain significance	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000515431	SCV001315363	uncertain significance	Autosomal recessive nonsyndromic hearing loss 49	2017-04-27	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000724698	SCV004810868	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	MARVELD2: BP4