ClinVar Miner

Submissions for variant NM_145207.3(AFG2A):c.1810C>T (p.Gln604Ter)

dbSNP: rs373156651
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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 RCV001388403 SCV001589376 pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln604*) in the SPATA5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPATA5 are known to be pathogenic (PMID: 26299366). This variant is present in population databases (rs373156651, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SPATA5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1074946). For these reasons, this variant has been classified as Pathogenic.
MGZ Medical Genetics Center RCV001388403 SCV002581289 likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2022-03-07 criteria provided, single submitter clinical testing

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