Submissions for variant NM_002529.4(NTRK1):c.1908G>A (p.Ala636=)

gnomAD frequency: 0.00198  dbSNP: rs17838192

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000524698	SCV000519010	likely benign	not provided	2020-12-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080490	SCV000626953	benign	Hereditary insensitivity to pain with anhidrosis	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000524698	SCV001144786	benign	not provided	2019-06-13	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001080490	SCV001159665	benign	Hereditary insensitivity to pain with anhidrosis	2023-09-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001080490	SCV001252455	uncertain significance	Hereditary insensitivity to pain with anhidrosis	2018-01-13	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.
CeGaT Center for Human Genetics Tuebingen	RCV000524698	SCV001500852	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	NTRK1: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000524698	SCV001925524	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000524698	SCV001974681	likely benign	not provided		no assertion criteria provided	clinical testing