ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys)

gnomAD frequency: 0.00009  dbSNP: rs142297424
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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 RCV001218998 SCV001390913 uncertain significance Bardet-Biedl syndrome 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 532 of the BBS10 protein (p.Arg532Lys). This variant is present in population databases (rs142297424, gnomAD 0.03%). 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: 947855). 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 lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
New York Genome Center RCV001833900 SCV002764460 uncertain significance Bardet-Biedl syndrome 10 2021-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562467 SCV003686074 uncertain significance Inborn genetic diseases 2025-02-19 criteria provided, single submitter clinical testing The c.1595G>A (p.R532K) alteration is located in exon 2 (coding exon 2) of the BBS10 gene. This alteration results from a G to A substitution at nucleotide position 1595, causing the arginine (R) at amino acid position 532 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833900 SCV002091755 uncertain significance Bardet-Biedl syndrome 10 2020-02-26 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003405404 SCV004107562 uncertain significance BBS10-related disorder 2024-08-19 no assertion criteria provided clinical testing The BBS10 c.1595G>A variant is predicted to result in the amino acid substitution p.Arg532Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.036% of alleles in individuals of African 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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