Submissions for variant NM_014000.3(VCL):c.2748G>A (p.Pro916=)

gnomAD frequency: 0.00006  dbSNP: rs761794669

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000426627	SCV000519126	likely benign	not specified	2015-10-26	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	RCV000560212	SCV000645855	likely benign	Dilated cardiomyopathy 1W	2023-10-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004022333	SCV004977999	uncertain significance	Cardiovascular phenotype	2021-06-24	criteria provided, single submitter	clinical testing	The c.2748G>A (p.P916P) alteration is located in exon 19 (coding exon 19) of the VCL gene. This alteration consists of a G to A substitution at nucleotide position 2748. This nucleotide substitution does not change the amino acid at codon 916. However, this change occurs in the last nucleotide of Exon 19 (c.2746_2949) which makes it likely to have some effect on normal mRNA splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.