ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.509A>G (p.Gln170Arg)

gnomAD frequency: 0.00001  dbSNP: rs774163850
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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 RCV001047356 SCV001211308 uncertain significance Bardet-Biedl syndrome 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 170 of the BBS1 protein (p.Gln170Arg). This variant is present in population databases (rs774163850, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 844498). 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 RCV001272376 SCV002815875 uncertain significance Bardet-Biedl syndrome 1 2022-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160362 SCV003873688 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.509A>G (p.Q170R) alteration is located in exon 6 (coding exon 6) of the BBS1 gene. This alteration results from a A to G substitution at nucleotide position 509, causing the glutamine (Q) at amino acid position 170 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001272376 SCV001454312 uncertain significance Bardet-Biedl syndrome 1 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004743260 SCV005350295 uncertain significance BBS1-related disorder 2024-03-27 no assertion criteria provided clinical testing The BBS1 c.509A>G variant is predicted to result in the amino acid substitution p.Gln170Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% 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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