ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs)

dbSNP: rs2144018381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002211034 SCV002496392 likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2022-01-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002211034 SCV005076780 pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2024-04-10 criteria provided, single submitter clinical testing Variant summary: LAMA1 c.7009dupT (p.Ser2337PhefsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251292 control chromosomes. To our knowledge, no occurrence of c.7009dupT in individuals affected with Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1675305). Based on the evidence outlined above, the variant was classified as pathogenic.

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