ClinVar Miner

Submissions for variant NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe) (rs1594986869)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796505 SCV000936023 pathogenic Hereditary sensory and autonomic neuropathy type IC 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 384 of the SPTLC2 protein (p.Ser384Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with hereditary sensory and autonomic neuropathy (PMID: 25567748, 29184351). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 637418). This variant has been reported to affect SPTLC2 protein function (PMID: 25567748, 26681808). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789584 SCV000928940 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
OMIM RCV000796505 SCV000998542 pathogenic Hereditary sensory and autonomic neuropathy type IC 2019-11-04 no assertion criteria provided literature only

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