ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.1561-1G>A

gnomAD frequency: 0.00001  dbSNP: rs763238645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814725 SCV002061505 likely pathogenic Hydrolethalus syndrome 2 2021-08-20 criteria provided, single submitter clinical testing PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV001885300 SCV002310908 likely pathogenic Acrocallosal syndrome 2022-03-04 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1334544). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. This variant is present in population databases (rs763238645, gnomAD 0.002%). This sequence change affects an acceptor splice site in intron 6 of the KIF7 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in KIF7 are known to be pathogenic (PMID: 19666503, 21552264, 21633164, 26648833).

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