ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr)

dbSNP: rs1346584719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058377 SCV001222943 uncertain significance Bardet-Biedl syndrome 2021-05-07 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BBS1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 422 of the BBS1 protein (p.Ala422Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine.
Natera, Inc. RCV001827367 SCV002094761 uncertain significance Bardet-Biedl syndrome 1 2020-08-31 no assertion criteria provided clinical testing

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