ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)

dbSNP: rs137852837
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen 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, Children's Hospital Westmead 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.

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