ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) (rs1215612827)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631313 SCV000752341 uncertain significance Hereditary sensory and autonomic neuropathy type 1 2019-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg329*) in the SPTLC1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SPTLC1-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SPTLC1 cause disease. 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 RCV001174082 SCV001337202 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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