ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.2344C>T (p.Arg782Ter)

gnomAD frequency: 0.00003  dbSNP: rs374851540
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627332 SCV000748324 pathogenic not provided 2022-02-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 34423300)
Revvity Omics, Revvity RCV001421034 SCV002016403 pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2023-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000627332 SCV002217974 pathogenic not provided 2024-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg782*) 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 (rs374851540, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of LAMA1-related conditions (PMID: 34423300). ClinVar contains an entry for this variant (Variation ID: 523859). For these reasons, this variant has been classified as Pathogenic.
Sayer Lab, Translational and Clinical Research Institute, Newcastle Unversity RCV001421034 SCV001623457 pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-05-21 no assertion criteria provided clinical testing

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