ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.5512C>T (p.Gln1838Ter)

dbSNP: rs376548651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627331 SCV000748323 pathogenic not provided 2023-12-21 criteria provided, single submitter clinical testing Observed with a second variant in a few patients with features of LAMA1-related neurodevelopmental and movement disorder referred for genetic testing at GeneDx and in published literature (PMID: 32195884); 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31589614, 32195884)
Revvity Omics, Revvity RCV001784188 SCV002016410 pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2020-06-08 criteria provided, single submitter clinical testing

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