ClinVar Miner

Submissions for variant NM_004863.4(SPTLC2):c.1145G>T (p.Gly382Val)

dbSNP: rs267607089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648366 SCV000770182 likely pathogenic Neuropathy, hereditary sensory and autonomic, type 1C 2019-11-26 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change alters protein function in-vitro (PMID: 20920666, 24175284, 26681808). This variant has been reported in individuals affected with hereditary sensory and autonomic neuropathy (PMID: 20920666). ClinVar contains an entry for this variant (Variation ID: 4797). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 382 of the SPTLC2 protein (p.Gly382Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268055 SCV001446663 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000648366 SCV000025240 pathogenic Neuropathy, hereditary sensory and autonomic, type 1C 2010-10-08 no assertion criteria provided literature only

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