ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr) (rs150792865)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706729 SCV000835796 uncertain significance Hereditary sensory and autonomic neuropathy type 1 2018-06-28 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 462 of the SPTLC1 protein (p.Ser462Tyr). The serine residue is weakly conserved and there is a large physicochemical difference between serine and tyrosine. This variant is present in population databases (rs150792865, ExAC 0.003%). This variant has not been reported in the literature in individuals with SPTLC1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV001174085 SCV001337205 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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