ClinVar Miner

Submissions for variant NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln)

gnomAD frequency: 0.00006  dbSNP: rs769369302
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454297 SCV000537911 likely pathogenic Abnormal brain morphology criteria provided, single submitter research There is one more families with similar phenotype
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000516160 SCV002512487 likely pathogenic Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 2021-08-17 criteria provided, single submitter clinical testing ACMG classification criteria: PS3 supporting, PS4 supporting, PM2 moderate, PM3 moderate
OMIM RCV000516160 SCV000612154 pathogenic Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 2019-08-20 no assertion criteria provided literature only
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV000516160 SCV004171611 uncertain significance Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 2023-11-24 no assertion criteria provided clinical testing

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