ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.326C>T (p.Ser109Leu)

gnomAD frequency: 0.00008  dbSNP: rs181736797
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002954203 SCV003281615 uncertain significance Bardet-Biedl syndrome 2022-04-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 109 of the BBS2 protein (p.Ser109Leu). This variant is present in population databases (rs181736797, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. 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.
Ambry Genetics RCV002970913 SCV003529740 uncertain significance Inborn genetic diseases 2025-03-08 criteria provided, single submitter clinical testing The c.326C>T (p.S109L) alteration is located in exon 2 (coding exon 2) of the BBS2 gene. This alteration results from a C to T substitution at nucleotide position 326, causing the serine (S) at amino acid position 109 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Dept Of Ophthalmology, Nagoya University RCV003889191 SCV004705079 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV004725431 SCV005337041 uncertain significance BBS2-related disorder 2024-04-09 no assertion criteria provided clinical testing The BBS2 c.326C>T variant is predicted to result in the amino acid substitution p.Ser109Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.055% of alleles in individuals of East Asian descent in gnomAD, which may be too common to be an unreported disease-causing variant. Although we suspect that this variant may be benign, 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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