ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.784CAA[3] (p.Gln265del)

dbSNP: rs1290912165
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960169 SCV002210136 uncertain significance Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2022-08-22 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with KIAA0586-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant, c.952_954del, results in the deletion of 1 amino acid(s) of the KIAA0586 protein (p.Gln318del), but otherwise preserves the integrity of the reading frame.

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