ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.4555G>C (p.Gly1519Arg)

gnomAD frequency: 0.00003  dbSNP: rs747710308
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332629 SCV001525008 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2019-08-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Breakthrough Genomics, Breakthrough Genomics RCV004692561 SCV005193229 uncertain significance not provided criteria provided, single submitter not provided
3billion, Medical Genetics RCV001332629 SCV005328750 likely benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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