ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.505C>T (p.Arg169Ter)

dbSNP: rs752872595
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595912 SCV000707844 pathogenic not provided 2017-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000595912 SCV003028096 pathogenic not provided 2022-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg169*) 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 (rs752872595, gnomAD 0.01%). 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: 501474). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000595912 SCV005372452 uncertain significance not provided 2023-06-14 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; Has not been previously published as pathogenic or benign to our knowledge

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