ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.1381G>A (p.Ala461Thr)

gnomAD frequency: 0.00008  dbSNP: rs181711422
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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 RCV001423842 SCV001626430 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169338 SCV003869999 uncertain significance Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing The c.1381G>A (p.A461T) alteration is located in exon 6 (coding exon 5) of the DSE gene. This alteration results from a G to A substitution at nucleotide position 1381, causing the alanine (A) at amino acid position 461 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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