ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.2231G>A (p.Arg744His)

gnomAD frequency: 0.00006  dbSNP: rs751281792
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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 RCV001048568 SCV001212581 likely benign Hereditary insensitivity to pain with anhidrosis 2023-12-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310878 SCV001500853 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001048568 SCV001456804 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003953444 SCV004775818 uncertain significance NTRK1-related disorder 2023-12-20 no assertion criteria provided clinical testing The NTRK1 c.2231G>A variant is predicted to result in the amino acid substitution p.Arg744His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.056% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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