ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.2860-4G>C

gnomAD frequency: 0.00005  dbSNP: rs370134977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546841 SCV000654482 likely benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2024-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438477 SCV002750332 uncertain significance Inborn genetic diseases 2021-06-09 criteria provided, single submitter clinical testing The c.2761-4G>C intronic variant results from a G to C substitution 4 nucleotides upstream from coding exon 21 in the DST gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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