ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.136C>T (p.Leu46Phe)

dbSNP: rs1951778317
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234821 SCV001407481 uncertain significance Bardet-Biedl syndrome 2023-07-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BBS10-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 46 of the BBS10 protein (p.Leu46Phe). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 961170). 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) performed at Invitae indicates that this missense variant is expected to disrupt BBS10 protein function. 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.

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