Submissions for variant NM_001164508.2(NEB):c.3349G>A (p.Val1117Met)

gnomAD frequency: 0.00001  dbSNP: rs1404806019

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001212362	SCV001383945	likely benign	Nemaline myopathy 2	2023-10-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002561786	SCV003584143	uncertain significance	Inborn genetic diseases	2021-09-17	criteria provided, single submitter	clinical testing	The c.3349G>A (p.V1117M) alteration is located in exon 33 (coding exon 31) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 3349, causing the valine (V) at amino acid position 1117 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx	RCV004774309	SCV005387498	uncertain significance	not provided	2023-12-22	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc.	RCV001212362	SCV002077744	uncertain significance	Nemaline myopathy 2	2020-04-13	no assertion criteria provided	clinical testing