ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.7136A>T (p.Asp2379Val)

gnomAD frequency: 0.00005  dbSNP: rs372144286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002273602 SCV002558468 uncertain significance not provided 2022-01-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003992622 SCV004809931 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2024-04-04 criteria provided, single submitter clinical testing

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