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

gnomAD frequency: 0.00001  dbSNP: rs1215612827

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000631313	SCV000752341	uncertain significance	Hereditary sensory and autonomic neuropathy type 1	2019-05-24	criteria provided, single submitter	clinical testing	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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SPTLC1 cause disease. This variant has not been reported in the literature in individuals with SPTLC1-related disease. This variant is not present in population databases (ExAC no frequency). 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.
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001174082	SCV001337202	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Genomics England Pilot Project, Genomics England	RCV001542677	SCV001760244	likely pathogenic	Neuropathy, hereditary sensory and autonomic, type 1A		no assertion criteria provided	clinical testing