ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys)

dbSNP: rs374706769
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638361 SCV000759860 uncertain significance Bardet-Biedl syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 480 of the BBS1 protein (p.Thr480Lys). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is present in population databases (rs374706769, ExAC 0.04%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. 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.
Fulgent Genetics, Fulgent Genetics RCV001829791 SCV002791361 uncertain significance Bardet-Biedl syndrome 1 2021-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002529878 SCV003757755 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.1439C>A (p.T480K) alteration is located in exon 14 (coding exon 14) of the BBS1 gene. This alteration results from a C to A substitution at nucleotide position 1439, causing the threonine (T) at amino acid position 480 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829791 SCV002094769 uncertain significance Bardet-Biedl syndrome 1 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004742546 SCV005351547 uncertain significance BBS1-related disorder 2024-06-18 no assertion criteria provided clinical testing The BBS1 c.1439C>A variant is predicted to result in the amino acid substitution p.Thr480Lys. To our knowledge, this variant has not been reported in the literature. 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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