ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.1217C>T (p.Pro406Leu)

dbSNP: rs1563465064
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001563632 SCV001786611 uncertain significance Hereditary sensory and autonomic neuropathy type 6 2020-11-25 criteria provided, single submitter clinical testing The DST c.1118C>T (p.Pro373Leu) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. The p.Pro373Leu variant is located at the 5' end of exon 10; it is unclear whether the variant lies in a non-coding region, upstream of the dystonin-a3/b3 isoform initiation codon (Motley et al. 2020), or is expected to be present in both the neuronal and muscular isoforms (Fortugno et al. 2019). Based on the limited evidence, the p.Pro373Leu variant is classified as a variant of uncertain significance for hereditary sensory and autonomic neuropathy type VI.

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