ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) (rs376306240)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675071 SCV000800556 uncertain significance Bardet-Biedl syndrome 2 2017-06-30 criteria provided, single submitter clinical testing
Mendelics RCV000675071 SCV001140109 pathogenic Bardet-Biedl syndrome 2 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001049931 SCV001214011 likely pathogenic Bardet-Biedl syndrome 2019-12-21 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 134 of the BBS2 protein (p.Pro134Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs376306240, ExAC 0.006%). This variant has been observed to segregate with nonsyndromic retinitis pigmentosa in a family (PMID: 25541840). ClinVar contains an entry for this variant (Variation ID: 209043). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Blueprint Genetics RCV001074319 SCV001239892 pathogenic Retinal dystrophy 2019-06-29 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

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