ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.5584A>G (p.Arg1862Gly)

gnomAD frequency: 0.00001  dbSNP: rs773614520
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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 RCV001332630 SCV001525009 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2019-12-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546587 SCV002984014 uncertain significance not provided 2022-08-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1862 of the LAMA1 protein (p.Arg1862Gly). This variant is present in population databases (rs773614520, gnomAD 0.006%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1030934). This variant has not been reported in the literature in individuals affected with LAMA1-related conditions.
Breakthrough Genomics, Breakthrough Genomics RCV002546587 SCV005193228 uncertain significance not provided criteria provided, single submitter not provided

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