ClinVar Miner

Submissions for variant NM_014804.3(KIAA0753):c.1571_1572del (p.Arg524fs)

dbSNP: rs770256450
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507571 SCV000604069 pathogenic not specified 2017-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524917 SCV003484276 pathogenic not provided 2022-11-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this premature translational stop signal affects KIAA0753 function (PMID: 34523780). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 439846). This premature translational stop signal has been observed in individuals with KIAA0753-related conditions (PMID: 34016807, 34523780). This variant is present in population databases (rs770256450, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Arg524Thrfs*7) in the KIAA0753 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIAA0753 are known to be pathogenic (PMID: 29138412).
OMIM RCV001559338 SCV001781547 pathogenic Short-rib thoracic dysplasia 21 without polydactyly 2021-10-07 no assertion criteria provided literature only

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