ClinVar Miner

Submissions for variant NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) (rs121908258)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523135 SCV000617801 likely pathogenic not provided 2017-10-04 criteria provided, single submitter clinical testing The Y293C likely pathogenic variant in the CHST14 gene has been reported in the homozygous state in a patient with adducted thumb-clubfoot syndrome (Dundar et al., 2009). This variant has also been reported a patient with dermatan 4-O-sulfotransferase 1 deficiency who also harbored an additional CHST14 variant in trans (Shimizu et al., 2011). This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The Y293C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Finally, functional studies demonstrate that this variant leads to decreased sulfotransferase activity (Miyake et al., 2010).
OMIM RCV000002429 SCV000022587 pathogenic Ehlers-Danlos syndrome, musculocontractural type 2010-08-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000002429 SCV000091174 not provided Ehlers-Danlos syndrome, musculocontractural type no assertion provided not provided

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