ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.98C>A (p.Ala33Asp) (rs797045155)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675055 SCV000800503 uncertain significance Bardet-Biedl syndrome 2 2017-03-16 criteria provided, single submitter clinical testing
Invitae RCV001380380 SCV001578425 pathogenic Bardet-Biedl syndrome 2020-08-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 33 of the BBS2 protein (p.Ala33Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with nonsyndromic retinitis pigmentosa and in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 25541840, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 209042). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000190987 SCV000245874 pathogenic Retinitis pigmentosa 74 2015-03-01 no assertion criteria provided literature only
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002878 SCV001160911 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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