ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) (rs119482081)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000005067 SCV000825974 pathogenic Hereditary sensory and autonomic neuropathy type 1 2019-03-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 133 of the SPTLC1 protein (p.Cys133Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with hereditary sensory neuropathy in several families (PMID: 11242106, 11242114, 15546589). ClinVar contains an entry for this variant (Variation ID: 4800). Experimental studies have shown that this missense change affects the function of the SPTLC1 protein (PMID: 12417569, 19132419, 20097765, 26681808). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001249800 SCV000025243 pathogenic Neuropathy, hereditary sensory and autonomic, type 1A 2001-03-01 no assertion criteria provided literature only
GeneReviews RCV001249800 SCV000058072 pathologic Neuropathy, hereditary sensory and autonomic, type 1A 2013-03-07 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV001027483 SCV001190056 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided provider interpretation

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