ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.986C>T (p.Ala329Val)

gnomAD frequency: 0.00004  dbSNP: rs201987100
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152840 SCV000202236 uncertain significance not provided 2014-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850086 SCV002294917 uncertain significance Bardet-Biedl syndrome 2022-02-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 329 of the BBS4 protein (p.Ala329Val). This variant is present in population databases (rs201987100, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. ClinVar contains an entry for this variant (Variation ID: 166735). 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: "Possibly 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 RCV002483324 SCV002790237 uncertain significance Bardet-Biedl syndrome 4 2021-11-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004748603 SCV005359803 uncertain significance BBS4-related disorder 2024-03-11 no assertion criteria provided clinical testing The BBS4 c.986C>T variant is predicted to result in the amino acid substitution p.Ala329Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South 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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