ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.1852C>T (p.Arg618Cys) (rs764992664)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001381359 SCV001579722 pathogenic Hereditary insensitivity to pain with anhidrosis 2020-06-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 648 of the NTRK1 protein (p.Arg648Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs764992664, ExAC 0.002%). This variant has been observed in individual(s) with NTRK1-related conditions (PMID: 10982191, 24631696, 22302274). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Arg654Cys in the literature. ClinVar contains an entry for this variant (Variation ID: 637430). This variant has been reported to affect NTRK1 protein function (PMID: 11159935). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789609 SCV000928973 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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