ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.184C>T (p.Arg62Ter)

gnomAD frequency: 0.00001  dbSNP: rs758223206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647167 SCV001519155 pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-01-04 criteria provided, single submitter research
DASA RCV001647167 SCV002499415 likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2022-04-10 criteria provided, single submitter clinical testing The c.184C>T;p.(Arg62*) variant creates a premature translational stop signal in the LAMA1 gene. It is expected to result in an absent or disrupted protein product -PVS1. The variant is present at low allele frequencies population databases (rs758223206 – gnomAD 0.00007964%; ABraOM 0.000427 frequency - https://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is likely pathogenic.

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