ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.460C>T (p.Arg154Ter)

gnomAD frequency: 0.00001  dbSNP: rs387907044
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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 RCV000023882 SCV005838991 pathogenic Acrocallosal syndrome 2024-08-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg154*) 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). 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 premature translational stop signal has been observed in individual(s) with clinical features of KIF7-related conditions (PMID: 21552264). ClinVar contains an entry for this variant (Variation ID: 30896). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000023882 SCV000045173 pathogenic Acrocallosal syndrome 2011-06-01 no assertion criteria provided literature only

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