Submissions for variant NM_002471.4(MYH6):c.2702A>G (p.Asn901Ser)

dbSNP: rs1891315952

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV003298917	SCV004001615	uncertain significance	Cardiovascular phenotype	2023-05-22	criteria provided, single submitter	clinical testing	The p.N901S variant (also known as c.2702A>G), located in coding exon 20 of the MYH6 gene, results from an A to G substitution at nucleotide position 2702. The asparagine at codon 901 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530095	SCV001744717	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001530095	SCV001924904	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001530095	SCV001929123	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001530095	SCV001953456	likely benign	not provided		no assertion criteria provided	clinical testing