ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.358G>A (p.Ala120Thr)

gnomAD frequency: 0.00030  dbSNP: rs148808295
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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 RCV000457908 SCV000551889 uncertain significance Bardet-Biedl syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 120 of the BBS2 protein (p.Ala120Thr). This variant is present in population databases (rs148808295, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 410986). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BBS2 protein function. 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 RCV002475884 SCV002786820 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002523348 SCV003688237 uncertain significance Inborn genetic diseases 2022-05-16 criteria provided, single submitter clinical testing The c.358G>A (p.A120T) alteration is located in exon 3 (coding exon 3) of the BBS2 gene. This alteration results from a G to A substitution at nucleotide position 358, causing the alanine (A) at amino acid position 120 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833591 SCV002089307 uncertain significance Bardet-Biedl syndrome 2 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004533200 SCV004117607 uncertain significance BBS2-related disorder 2024-02-15 no assertion criteria provided clinical testing The BBS2 c.358G>A variant is predicted to result in the amino acid substitution p.Ala120Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.092% of alleles in individuals of African descent in gnomAD, which may be too common to be an undocumented primary cause of disease. 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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