ClinVar Miner

Submissions for variant NM_002529.3(NTRK1):c.940C>T (p.Arg314Cys) (rs137994522)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000237064 SCV000293255 uncertain significance not provided 2015-10-28 criteria provided, single submitter clinical testing The R314C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The NHLBI Exome Sequencing Project and the 1000 Genomes Project reports R314C was observed in 0.5-2.5% alleles from individuals of African background, indicating it may be a rare (benign) variant in this population. The R314C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000539145 SCV000626980 likely benign Hereditary insensitivity to pain with anhidrosis 2017-09-07 criteria provided, single submitter clinical testing
Mendelics RCV000708814 SCV000837800 uncertain significance Familial medullary thyroid carcinoma 2018-07-02 criteria provided, single submitter clinical testing

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