ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) (rs143113298)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463506 SCV000553793 uncertain significance Bardet-Biedl syndrome 2019-12-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 251 of the BBS5 protein (p.Asn251Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs143113298, ExAC 0.2%). This variant has been reported in two siblings affected with Bardet-Biedl syndrome (PMID: 22626039). However, in these siblings, pathogenic alleles were also identified in a different gene, which suggests that this c.751A>G variant was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 412295). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000765535 SCV000896850 uncertain significance Bardet-Biedl syndrome 5 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090461 SCV001246023 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing

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