Submissions for variant NM_001164508.2(NEB):c.5420C>T (p.Ala1807Val)

gnomAD frequency: 0.00016  dbSNP: rs373790988

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001722565	SCV000714746	uncertain significance	not provided	2024-11-15	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV000641490	SCV000763131	likely benign	Nemaline myopathy 2	2025-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000641490	SCV001293547	uncertain significance	Nemaline myopathy 2	2018-03-16	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics	RCV002529379	SCV003569342	uncertain significance	Inborn genetic diseases	2021-10-12	criteria provided, single submitter	clinical testing	The c.5420C>T (p.A1807V) alteration is located in exon 44 (coding exon 42) of the NEB gene. This alteration results from a C to T substitution at nucleotide position 5420, causing the alanine (A) at amino acid position 1807 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001722565	SCV003810323	uncertain significance	not provided	2023-03-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001722565	SCV005041687	uncertain significance	not provided	2024-04-01	criteria provided, single submitter	clinical testing	NEB: PM2:Supporting, BP4