ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe) (rs369803886)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806535 SCV000946539 uncertain significance Hereditary sensory and autonomic neuropathy type 1 2018-11-29 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 390 of the SPTLC1 protein (p.Leu390Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs369803886, ExAC 0.01%). This variant has not been reported in the literature in individuals with SPTLC1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174080 SCV001337200 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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