ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.5407C>T (p.Gln1803Ter)

dbSNP: rs1568019012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000708572 SCV000837692 pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2018-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532883 SCV003303393 pathogenic not provided 2022-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1803*) 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). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with LAMA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 584439). For these reasons, this variant has been classified as Pathogenic.

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