ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)

gnomAD frequency: 0.00003  dbSNP: rs376306240
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000675071 SCV001140109 pathogenic Bardet-Biedl syndrome 2 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001049931 SCV001214011 pathogenic Bardet-Biedl syndrome 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 134 of the BBS2 protein (p.Pro134Arg). This variant is present in population databases (rs376306240, gnomAD 0.01%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 25541840, 31877679). 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. ClinVar contains an entry for this variant (Variation ID: 209043). 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 not expected to disrupt BBS2 protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074319 SCV001239892 pathogenic Retinal dystrophy 2019-06-29 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000675071 SCV002060188 uncertain significance Bardet-Biedl syndrome 2 2021-11-08 criteria provided, single submitter clinical testing NM_031885.3(BBS2):c.401C>G(P134R) is a missense variant classified as a variant of uncertain significance in the context of Bardet-Biedl syndrome, BBS2-related. P134R has not been observed in cases with relevant disease. Functional assessments of this variant are available in the literature (PMID: DeBenedictis_2020_(no PMID; article), Perkins_2015_(no PMID; abstract)). P134R has been observed in population frequency databases (gnomAD: OTH 0.02%). In summary, there is insufficient evidence to classify NM_031885.3(BBS2):c.401C>G(P134R) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.
Baylor Genetics RCV000675071 SCV004213990 pathogenic Bardet-Biedl syndrome 2 2023-10-10 criteria provided, single submitter clinical testing
OMIM RCV000190988 SCV000245875 pathogenic Retinitis pigmentosa 74 2015-03-01 no assertion criteria provided literature only
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002875 SCV001160908 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research
Natera, Inc. RCV000675071 SCV002089306 likely pathogenic Bardet-Biedl syndrome 2 2021-01-13 no assertion criteria provided clinical testing

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