ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.585G>A (p.Thr195=)

gnomAD frequency: 0.00007  dbSNP: rs182531655
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000325504 SCV000349043 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000325504 SCV001018158 likely benign Hereditary insensitivity to pain with anhidrosis 2024-01-29 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000325504 SCV001652851 uncertain significance Hereditary insensitivity to pain with anhidrosis 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001576585 SCV001803805 likely benign not provided 2021-03-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001576585 SCV002544327 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing NTRK1: BP4, BP7
Ambry Genetics RCV002356403 SCV002647677 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003967821 SCV004792803 likely benign NTRK1-related disorder 2019-04-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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