ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys)

gnomAD frequency: 0.00001  dbSNP: rs761304709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638360 SCV000759858 uncertain significance Bardet-Biedl syndrome 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 588 of the BBS1 protein (p.Glu588Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This missense change has been observed in individual(s) with clinical features of BBS1-related conditions (Invitae). 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 disruptive. 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.
Ambry Genetics RCV002533214 SCV003527851 uncertain significance Inborn genetic diseases 2021-03-25 criteria provided, single submitter clinical testing The c.1762G>A (p.E588K) alteration is located in exon 17 (coding exon 17) of the BBS1 gene. This alteration results from a G to A substitution at nucleotide position 1762, causing the glutamic acid (E) at amino acid position 588 to be replaced by a lysine (K). The p.E588K alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829790 SCV002094782 uncertain significance Bardet-Biedl syndrome 1 2019-10-28 no assertion criteria provided clinical testing

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