ClinVar Miner

Submissions for variant NM_130468.3(CHST14):c.160dup (p.Ser54fs) (rs1566969054)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697604 SCV000826224 likely pathogenic Ehlers-Danlos syndrome, musculocontractural type 2018-04-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CHST14 gene (p.Ser54Lysfs*92). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 323 amino acids of the CHST14 protein. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CHST14-related disease. Several different truncating variants localized downstream of this variant (c.453dupC, c.977_980dupCCTG, c.981_1000dup20, c.676_682delAAGTTTGinsGCTATGGGGCT) have been reported in the literature in individuals affected with adducted thumb clubfoot syndrome (PMID: 26373698, 26373698, 20842734, 22987394). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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