Submissions for variant NM_000257.4(MYH7):c.4872G>T (p.Glu1624Asp)

dbSNP: rs766561921

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000493336	SCV000581822	uncertain significance	not provided	2017-05-01	criteria provided, single submitter	clinical testing	The E1624D variant has not been published as pathogenic or been reported as benign to our knowledge. The E1624D variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species. The majority (2 out of 3) of in silico analyses predicts this variant is probably damaging to the protein structure/function. Nevertheless, the E1624D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.
Ambry Genetics	RCV000618238	SCV000740267	uncertain significance	Cardiovascular phenotype	2017-12-08	criteria provided, single submitter	clinical testing	The p.E1624D variant (also known as c.4872G>T), located in coding exon 32 of the MYH7 gene, results from a G to T substitution at nucleotide position 4872. The glutamic acid at codon 1624 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.