ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.602C>A (p.Pro201His)

gnomAD frequency: 0.00061  dbSNP: rs146201511
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810037 SCV000950223 likely benign Hereditary insensitivity to pain with anhidrosis 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000810037 SCV002048028 uncertain significance Hereditary insensitivity to pain with anhidrosis 2021-01-25 criteria provided, single submitter clinical testing The NTRK1 c.602C>A; p.Pro201His variant (rs146201511), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 654141). This variant is found in the African population with an overall allele frequency of 0.19% (35/18374 alleles) in the Genome Aggregation Database. The proline at codon 201 is highly conserved, but computational analyses predict that this variant is neutral (REVEL: 0.08). Given the lack of clinical and functional data, the significance of the p.Pro201His variant is uncertain at this time.
Ambry Genetics RCV002352400 SCV002657654 likely benign Inborn genetic diseases 2024-01-24 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.
Natera, Inc. RCV000810037 SCV001459283 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-04-17 no assertion criteria provided clinical testing

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