ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly)

gnomAD frequency: 0.00001  dbSNP: rs933207351
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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 RCV001348832 SCV001543150 uncertain significance Bardet-Biedl syndrome 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 454 of the BBS10 protein (p.Ser454Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BBS10-related conditions. ClinVar contains an entry for this variant (Variation ID: 1044570). 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. 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.
Natera, Inc. RCV001831147 SCV002091764 uncertain significance Bardet-Biedl syndrome 10 2020-09-28 no assertion criteria provided clinical testing

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