ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.2057G>A (p.Arg686Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002666380 SCV003719795 uncertain significance Inborn genetic diseases 2022-07-27 criteria provided, single submitter clinical testing The c.2057G>A (p.R686Q) alteration is located in exon 16 (coding exon 16) of the BBS2 gene. This alteration results from a G to A substitution at nucleotide position 2057, causing the arginine (R) at amino acid position 686 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021756 SCV005643988 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733608 SCV005344757 uncertain significance BBS2-related disorder 2024-07-01 no assertion criteria provided clinical testing The BBS2 c.2057G>A variant is predicted to result in the amino acid substitution p.Arg686Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0050% of alleles in individuals of East Asian 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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