Submissions for variant NM_001017980.4(VMA21):c.15T>G (p.Asp5Glu)

gnomAD frequency: 0.00031  dbSNP: rs765120199

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000442228	SCV000521887	likely benign	not specified	2016-07-22	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000877551	SCV001020299	likely benign	X-linked myopathy with excessive autophagy	2024-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002525338	SCV003561224	uncertain significance	Inborn genetic diseases	2022-09-22	criteria provided, single submitter	clinical testing	The c.15T>G (p.D5E) alteration is located in exon 1 (coding exon 1) of the VMA21 gene. This alteration results from a T to G substitution at nucleotide position 15, causing the aspartic acid (D) at amino acid position 5 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV003430988	SCV004167024	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	VMA21: BS2
PreventionGenetics, part of Exact Sciences	RCV003902522	SCV004723379	likely benign	VMA21-related disorder	2020-07-15	no assertion criteria provided	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).