ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.877G>A (p.Val293Met)

gnomAD frequency: 0.00002  dbSNP: rs769422545
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000384245 SCV000373269 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000384245 SCV001377265 uncertain significance Bardet-Biedl syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 293 of the BBS1 protein (p.Val293Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs769422545, ExAC 0.004%). 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: 305463). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV001833444 SCV002776755 uncertain significance Bardet-Biedl syndrome 1 2022-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278755 SCV003979443 uncertain significance Inborn genetic diseases 2023-04-26 criteria provided, single submitter clinical testing The c.877G>A (p.V293M) alteration is located in exon 10 (coding exon 10) of the BBS1 gene. This alteration results from a G to A substitution at nucleotide position 877, causing the valine (V) at amino acid position 293 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003977884 SCV004788364 uncertain significance BBS1-related condition 2023-10-20 criteria provided, single submitter clinical testing The BBS1 c.877G>A variant is predicted to result in the amino acid substitution p.Val293Met. To our knowledge, this variant has not been reported in association with Bardet-Biedl syndrome in the literature. This variant is reported in 0.0053% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-66290973-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001833444 SCV002094746 uncertain significance Bardet-Biedl syndrome 1 2019-10-28 no assertion criteria provided clinical testing

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