Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV000507380 | SCV000605600 | likely pathogenic | not specified | 2017-01-17 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000578488 | SCV000807644 | uncertain significance | Cranioectodermal dysplasia 2 | 2017-09-01 | criteria provided, single submitter | clinical testing | This variant was previously reported as pathogenic and was found once in our laboratory In trans with another missense variant (H1031Y) in a 6-month-old male with cranioectodermal dysplasia. Heterozygotes would be expected to be asymptomatic carriers. |
| Ambry Genetics | RCV001266500 | SCV001444675 | likely pathogenic | Inborn genetic diseases | 2023-10-31 | criteria provided, single submitter | clinical testing | The c.3203A>G (p.Y1068C) alteration is located in coding exon 27 of the WDR35 gene. This alteration results from an A to G substitution at nucleotide position 3203, causing the tyrosine (Y) at amino acid position 1068 to be replaced by a cysteine (C). Based on data from gnomAD, the G allele has an overall frequency of 0.001% (2/251262) total alleles studied. The highest observed frequency was 0.012% (2/16148) of African alleles. This variant has been reported as a compound heterozygous finding in trans in a child diagnosed with cranioectodermal dysplasia/Sensenbrenner syndrome (Lin, 2013; Li, 2023). This has also been prenatally detected as a compound heterozygous finding in a male fetus with hydrops and polyhydramnios on ultrasound (Walczak-Sztulpa, 2020). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic. |
| Fulgent Genetics, |
RCV005027590 | SCV005655424 | uncertain significance | Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly | 2024-04-24 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000578488 | SCV000680472 | pathogenic | Cranioectodermal dysplasia 2 | 2018-02-06 | no assertion criteria provided | literature only |