ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) (rs121917778)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000012930 SCV000807218 uncertain significance Bardet-Biedl syndrome 1 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported, but information was lacking to definitively assign it as disease-causing. It was found once in our laboratory in trans with a pathogenic missense mutation in a 4-month-old female with micrognathia, right ankle torsion, atrial septal defect, hydrometrocolpos, polydactyly, urogenital sinus.
Invitae RCV001055313 SCV001219700 pathogenic Bardet-Biedl syndrome 2020-01-13 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 518 of the BBS1 protein (p.Leu518Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs121917778, ExAC 0.003%). This variant has been observed in individuals affected with Bardet-Biedl syndrome (PMID: 12524598, 12920096). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 12147). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075155 SCV001240767 pathogenic Retinal dystrophy 2018-10-05 criteria provided, single submitter clinical testing
OMIM RCV000012930 SCV000033171 pathogenic Bardet-Biedl syndrome 1 2003-02-01 no assertion criteria provided literature only
Human Genetics - Radboudumc,Radboudumc RCV000012930 SCV000804597 uncertain significance Bardet-Biedl syndrome 1 2016-09-01 no assertion criteria provided clinical testing

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