ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.631G>A (p.Val211Met)

gnomAD frequency: 0.00017  dbSNP: rs201192875
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000382485 SCV000349044 uncertain significance Hereditary insensitivity to pain with anhidrosis 2018-01-12 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 RCV000382485 SCV000752370 likely benign Hereditary insensitivity to pain with anhidrosis 2024-01-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509069 SCV001715581 uncertain significance not provided 2019-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365332 SCV002661391 uncertain significance Inborn genetic diseases 2023-10-14 criteria provided, single submitter clinical testing The c.631G>A (p.V211M) alteration is located in exon 6 (coding exon 6) of the NTRK1 gene. This alteration results from a G to A substitution at nucleotide position 631, causing the valine (V) at amino acid position 211 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000382485 SCV002086528 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-01-17 no assertion criteria provided clinical testing

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