ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)

gnomAD frequency: 0.00001  dbSNP: rs750506474
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673306 SCV000798492 uncertain significance Bardet-Biedl syndrome 2 2018-03-12 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075001 SCV001240611 pathogenic Retinal dystrophy 2017-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092931 SCV001249676 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV001377155 SCV001574407 pathogenic Bardet-Biedl syndrome 2023-07-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 557198). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 21344540, 27353947). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs750506474, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 81 of the BBS2 protein (p.Gly81Cys).
Baylor Genetics RCV000673306 SCV004214017 likely pathogenic Bardet-Biedl syndrome 2 2023-08-14 criteria provided, single submitter clinical testing

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