Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001093324 | SCV001250248 | pathogenic | not provided | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001328242 | SCV003440991 | pathogenic | Bardet-Biedl syndrome | 2022-05-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 311 of the BBS10 protein (p.Ser311Ala). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 16823392, 26518167). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1331). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects BBS10 function (PMID: 20080638). |
OMIM | RCV000001394 | SCV000021544 | pathogenic | Bardet-Biedl syndrome 10 | 2006-11-01 | no assertion criteria provided | literature only | |
Sydney Genome Diagnostics, |
RCV001328242 | SCV001449190 | pathogenic | Bardet-Biedl syndrome | 2018-05-30 | no assertion criteria provided | clinical testing | This patient is homozygous for the c.931T>G (p.Ser311Ala) variant in the BBS10 gene. This variant has been previously described in a large extended family with multiple individuals with Bardet-Biedl syndrome (Laurier et al. 2006. Eur J Hum Genet 14:1195-1203; Stoetzel et al. 2006 Nat Genet 38:521-524). This variant is considered to be pathogenic according to the ACMG guidelines. Homozygous or compound heterozygous mutations in BBS10 are associated with Bardet-Biedl syndrome-10 (OMIM #615987). The mode of inheritance is autosomal recessive. |