ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)

gnomAD frequency: 0.00001  dbSNP: rs786204575
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169317 SCV000220646 likely pathogenic Bardet-Biedl syndrome 10 2014-08-27 criteria provided, single submitter literature only
Invitae RCV001244659 SCV001417894 pathogenic Bardet-Biedl syndrome 2023-12-29 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 414 of the BBS10 protein (p.Leu414Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 16582908, 21344540, 22773737, 29261186). ClinVar contains an entry for this variant (Variation ID: 188943). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BBS10 protein function. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BBS10 function (PMID: 20498079). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000169317 SCV002805335 pathogenic Bardet-Biedl syndrome 10 2021-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003390883 SCV004119839 pathogenic BBS10-related condition 2024-01-08 criteria provided, single submitter clinical testing The BBS10 c.1241T>C variant is predicted to result in the amino acid substitution p.Leu414Ser. This variant has been reported to be causative for Bardet-Biedl Syndrome (Stoetzel et al. 2006. PubMed ID: 16582908; Billingsley et al. 2010. PubMed ID: 20472660; Deveault et al. 2011. PubMed ID: 21344540). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic.
Baylor Genetics RCV000169317 SCV004217413 pathogenic Bardet-Biedl syndrome 10 2023-10-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000169317 SCV002091768 pathogenic Bardet-Biedl syndrome 10 2021-01-04 no assertion criteria provided clinical testing

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