ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) (rs863224782)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198771 SCV000255071 uncertain significance Bardet-Biedl syndrome 2015-01-02 criteria provided, single submitter clinical testing This variant, c.1568_1570delACA, is a complex sequence change that results in the deletion of 1 amino acids of the BBS1 protein (p.Asn524del). This variant has been reported in the literature and is not present in population databases. This variant was reported in at least 1 individual affected with Bardet-Biedel syndrome and was observed to co-occur with the pathogenic p.M390R mutation. Whether this variant segregates with disease remains uncertain (PMID: 17980398, 21344540). In summary, this variant has been observed in an individual affected with Bardet-Biedel syndrome who also had a known pathogenic mutation (p.M390R); this suggests that this c.1568_1570delACA in-frame codon loss may contribute to the disease. However, the impact on protein function is unknown and segregation with disease has not been reported. For these reasons, this change has been classified as a Variant of Uncertain Significance.

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