ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.224T>G (p.Val75Gly)

dbSNP: rs121908174
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000004831 SCV000796082 likely pathogenic Bardet-Biedl syndrome 2 2017-12-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001002877 SCV001586209 pathogenic Bardet-Biedl syndrome 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 75 of the BBS2 protein (p.Val75Gly). This variant is present in population databases (rs121908174, gnomAD 0.0009%). This missense change has been observed in individuals with clinical features of Bardet-Biedl syndrome (PMID: 11285252, 28143435, 31456290). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4569). 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 with a positive predictive value of 80%. Experimental studies have shown that this missense change affects BBS2 function (PMID: 20498079). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000004831 SCV004213996 likely pathogenic Bardet-Biedl syndrome 2 2023-10-05 criteria provided, single submitter clinical testing
OMIM RCV000004831 SCV000025007 pathogenic Bardet-Biedl syndrome 2 2001-04-01 no assertion criteria provided literature only
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002877 SCV001160910 pathogenic Bardet-Biedl syndrome 2019-06-23 no assertion criteria provided research

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