ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.3679G>A (p.Gly1227Arg)

gnomAD frequency: 0.00009  dbSNP: rs776158943
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001899944 SCV002122922 uncertain significance not provided 2024-10-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1227 of the LAMA1 protein (p.Gly1227Arg). This variant is present in population databases (rs776158943, gnomAD 0.008%). 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: 1361973). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt LAMA1 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002482513 SCV002792037 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-10-25 criteria provided, single submitter clinical testing

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