ClinVar Miner

Submissions for variant NC_000014.9:g.(?_77616438)_(77616589_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031080 SCV001194386 uncertain significance Neuropathy, hereditary sensory and autonomic, type 1C 2022-06-20 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the SPTLC2 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SPTLC2 cause disease. This variant has not been reported in the literature in individuals affected with SPTLC2-related conditions. 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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