Submissions for variant NM_001374736.1(DST):c.17764G>A (p.Ala5922Thr)

gnomAD frequency: 0.00002  dbSNP: rs781217704

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002034653	SCV002303957	uncertain significance	Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	2023-06-04	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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DST-related conditions. This variant is present in population databases (rs781217704, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3299 of the DST protein (p.Ala3299Thr). The DST gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_015548.4, and corresponds to NM_001723.5:c.*87866G>A in the primary transcript.
Mayo Clinic Laboratories, Mayo Clinic	RCV001795519	SCV004227269	uncertain significance	not provided	2022-02-11	criteria provided, single submitter	clinical testing	BP4, PM2
Clinical Genetics, Academic Medical Center	RCV001795519	SCV002034554	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001795519	SCV002038245	uncertain significance	not provided		no assertion criteria provided	clinical testing