Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| SIB Swiss Institute of Bioinformatics | RCV000001902 | SCV003932424 | likely pathogenic | Hypotrichosis 8 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for Hypotrichosis 8, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1 upgraded to moderate); For recessive disorders, detected in trans with a pathogenic variant (PM3); Well-established functional studies show a deleterious effect (PS3 downgraded to supporting) | |
| 3billion | RCV000001902 | SCV005904328 | likely pathogenic | Hypotrichosis 8 | 2023-07-25 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). Predicted Consequence/Location: Missense variant Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000001828 /PMID: 18461368 /3billion dataset). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (PMID: 21426374, 31077348). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline. |
| OMIM | RCV000001902 | SCV000022059 | pathogenic | Hypotrichosis 8 | 2011-08-01 | no assertion criteria provided | literature only | |
| Baylor Genetics | RCV000001902 | SCV000328829 | likely pathogenic | Hypotrichosis 8 | 2015-06-02 | no assertion criteria provided | clinical testing | Our laboratory reported dual molecular diagnoses in AGL (NM_000028.2, c.3836+1G>A) and LPAR6 (NM_005767.4, c.436G>A) in an individual with reported features of motor and speech delay, seizure disorder, woolly sparse hair and eye brows, and massive hepatomegaly. Thie LPAR6 VUS has been previously reported, but there is not sufficient information to categorize it as disease-causing. |