Submissions for variant NM_033118.4(MYLK2):c.1308C>T (p.Asn436=)

gnomAD frequency: 0.00023  dbSNP: rs369603764

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039781	SCV000063470	likely benign	not specified	2012-04-12	criteria provided, single submitter	clinical testing	Asn436Asn in Exon 10 of MYLK2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/7020 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Asn436Asn in exon 10 of MYLK2 (allele frequ ency = 1/7020) **
GeneDx	RCV000039781	SCV000170572	benign	not specified	2014-05-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001089240	SCV001003882	likely benign	Hypertrophic cardiomyopathy 1	2023-12-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381317	SCV002689976	likely benign	Inborn genetic diseases	2022-06-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003904950	SCV004718914	likely benign	MYLK2-related condition	2023-12-12	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).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000863252	SCV001959639	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000863252	SCV001967294	likely benign	not provided		no assertion criteria provided	clinical testing