ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.302T>A (p.Leu101His)

dbSNP: rs760863058
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001526711 SCV001737134 uncertain significance Bardet-Biedl syndrome 7 2021-05-19 criteria provided, single submitter clinical testing
Invitae RCV001873710 SCV002156148 uncertain significance Bardet-Biedl syndrome 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with histidine at codon 101 of the BBS7 protein (p.Leu101His). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and histidine. This variant is present in population databases (rs760863058, ExAC 0.04%). This variant has not been reported in the literature in individuals affected with BBS7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1172705). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001526711 SCV002793822 uncertain significance Bardet-Biedl syndrome 7 2022-04-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003966146 SCV004784831 uncertain significance BBS7-related condition 2024-01-31 criteria provided, single submitter clinical testing The BBS7 c.302T>A variant is predicted to result in the amino acid substitution p.Leu101His. This variant was reported in the homozygous state in an individual with inherited retinal disease (Villanueva-Mendoza et al 2021. PubMed ID: 34828430). This variant is reported in 0.026% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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