Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000002430 | SCV001361306 | pathogenic | Ehlers-Danlos syndrome, musculocontractural type | 2019-10-23 | criteria provided, single submitter | clinical testing | Variant summary: CHST14 c.842C>T (p.Pro281Leu) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251432 control chromosomes (gnomAD), however, it was reported in healthy Japanese individuals with an allele frequency of 0.0014 (in the jMorp database). The variant, c.842C>T, has also been reported in the literature in multiple homozygous and compound heterozygous individuals of Japanese ancestry who were affected with Ehlers-Danlos syndrome, musculocontractural type. These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in about 15% of normal activity (Miyake_2010). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |
| OMIM | RCV001290019 | SCV000022588 | pathogenic | Ehlers-Danlos syndrome, musculocontractural type 1 | 2010-08-01 | no assertion criteria provided | literature only |