Submissions for variant NM_002506.3(NGF):c.191C>T (p.Ala64Val)

gnomAD frequency: 0.00011  dbSNP: rs201087374

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000531393	SCV000626985	benign	Congenital sensory neuropathy with selective loss of small myelinated fibers	2024-09-09	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000597730	SCV000705492	uncertain significance	not provided	2017-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000597730	SCV001791522	likely benign	not provided	2020-01-15	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002413447	SCV002723347	uncertain significance	Inborn genetic diseases	2023-12-08	criteria provided, single submitter	clinical testing	The c.191C>T (p.A64V) alteration is located in exon 3 (coding exon 1) of the NGF gene. This alteration results from a C to T substitution at nucleotide position 191, causing the alanine (A) at amino acid position 64 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.