ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.1248del (p.Asp417fs)

dbSNP: rs1253153154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001921837 SCV002153032 pathogenic Acrocallosal syndrome 2022-09-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1380985). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp417Thrfs*38) in the KIF7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIF7 are known to be pathogenic (PMID: 19666503, 21552264, 21633164, 26648833).
Fulgent Genetics, Fulgent Genetics RCV005006143 SCV005643016 likely pathogenic Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-06-14 criteria provided, single submitter clinical testing

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