ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.230G>A (p.Gly77Asp)

dbSNP: rs761544006
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176382 SCV001340354 uncertain significance Cardiomyopathy 2018-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002559692 SCV003643689 uncertain significance Inborn genetic diseases 2022-08-29 criteria provided, single submitter clinical testing The c.230G>A (p.G77D) alteration is located in exon 3 (coding exon 3) of the DSC2 gene. This alteration results from a G to A substitution at nucleotide position 230, causing the glycine (G) at amino acid position 77 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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