ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.2935del (p.Arg979fs)

dbSNP: rs758601967
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996641 SCV001151460 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000996641 SCV001447671 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV002222193 SCV002499657 likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2022-03-14 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2
Invitae RCV000996641 SCV003442574 pathogenic not provided 2022-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg979Glyfs*45) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 808351). This premature translational stop signal has been observed in individuals with Poretti-Boltshauser syndrome (PMID: 26932191). This variant is present in population databases (rs758601967, gnomAD 0.003%).

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