Submissions for variant NM_002529.4(NTRK1):c.1860_1861insT (p.Pro621fs)

dbSNP: rs80356676

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000479042	SCV000565335	pathogenic	not provided	2022-11-03	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34405299, 28328124, 18955016, 10861667, 31841741, 32056211, 20301726, 34732685)
Baylor Genetics	RCV000020469	SCV001520941	pathogenic	Hereditary insensitivity to pain with anhidrosis	2019-09-05	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing in multiple individuals [PMID: 18955016, 10861667, 28328124, ClinVar ID: 21306]
Labcorp Genetics (formerly Invitae), Labcorp	RCV000020469	SCV002237779	pathogenic	Hereditary insensitivity to pain with anhidrosis	2021-09-01	criteria provided, single submitter	clinical testing
3billion, Medical Genetics	RCV000020469	SCV002573044	pathogenic	Hereditary insensitivity to pain with anhidrosis	2022-09-01	criteria provided, single submitter	clinical testing	The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000021306 / PMID: 10861667). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Institute of Human Genetics, University of Leipzig Medical Center	RCV000020469	SCV004027677	pathogenic	Hereditary insensitivity to pain with anhidrosis	2023-05-03	criteria provided, single submitter	clinical testing	Criteria applied: PVS1,PM3_STR,PM2_SUP
Genome-Nilou Lab	RCV000020469	SCV004048753	pathogenic	Hereditary insensitivity to pain with anhidrosis	2023-04-11	criteria provided, single submitter	clinical testing
OMIM	RCV000020469	SCV000033349	pathogenic	Hereditary insensitivity to pain with anhidrosis	2000-06-19	no assertion criteria provided	literature only
GeneReviews	RCV000020469	SCV000040902	not provided	Hereditary insensitivity to pain with anhidrosis		no assertion provided	literature only	Founder variant in Israeli Bedouins