ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.7187G>A (p.Arg2396Gln)

gnomAD frequency: 0.00038  dbSNP: rs200776408
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329428 SCV001520869 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2019-02-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001732128 SCV001982908 uncertain significance not provided 2023-02-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001732128 SCV002248209 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2396 of the LAMA1 protein (p.Arg2396Gln). This variant is present in population databases (rs200776408, gnomAD 0.09%). 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: 1028395). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002546322 SCV003717681 uncertain significance Inborn genetic diseases 2021-10-09 criteria provided, single submitter clinical testing The c.7187G>A (p.R2396Q) alteration is located in exon 50 (coding exon 50) of the LAMA1 gene. This alteration results from a G to A substitution at nucleotide position 7187, causing the arginine (R) at amino acid position 2396 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001732128 SCV004224458 uncertain significance not provided 2023-05-26 criteria provided, single submitter clinical testing BP4

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