ClinVar Miner

Submissions for variant NM_004863.4(SPTLC2):c.105AGCCGC[4] (p.Ala41_Ala42dup)

dbSNP: rs577436926
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840902 SCV000982847 likely benign not provided 2018-03-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001228780 SCV001401198 uncertain significance Neuropathy, hereditary sensory and autonomic, type 1C 2023-10-29 criteria provided, single submitter clinical testing This variant, c.117_122dup, results in the insertion of 2 amino acid(s) of the SPTLC2 protein (p.Ala41_Ala42dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs767978553, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with SPTLC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 681064). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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