ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.3919C>T (p.Arg1307Ter)

gnomAD frequency: 0.00004  dbSNP: rs767943611
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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 RCV002211033 SCV002496391 pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2022-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101224 SCV003442573 pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1675304). This premature translational stop signal has been observed in individual(s) with Poretti-Boltshauser syndrome (PMID: 26932191). This variant is present in population databases (rs767943611, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Arg1307*) in the LAMA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA1 are known to be pathogenic (PMID: 25105227, 26932191).

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