ClinVar Miner

Submissions for variant NM_004863.4(SPTLC2):c.778G>A (p.Glu260Lys)

dbSNP: rs2079620247
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208624 SCV001380023 uncertain significance Neuropathy, hereditary sensory and autonomic, type 1C 2022-08-09 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 939254). This variant has not been reported in the literature in individuals affected with SPTLC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 260 of the SPTLC2 protein (p.Glu260Lys).
MGZ Medical Genetics Center RCV001208624 SCV002581514 uncertain significance Neuropathy, hereditary sensory and autonomic, type 1C 2022-03-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001208624 SCV003825792 uncertain significance Neuropathy, hereditary sensory and autonomic, type 1C 2020-01-30 criteria provided, single submitter clinical testing

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