ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His)

gnomAD frequency: 0.00024  dbSNP: rs144830879
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000397163 SCV000460034 uncertain significance Congenital muscular dystrophy due to partial LAMA2 deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000695834 SCV000824355 benign LAMA2-related muscular dystrophy 2024-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764626 SCV000895734 uncertain significance Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2021-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002520403 SCV003721388 uncertain significance Inborn genetic diseases 2022-07-22 criteria provided, single submitter clinical testing The c.4205G>A (p.R1402H) alteration is located in exon 29 (coding exon 29) of the LAMA2 gene. This alteration results from a G to A substitution at nucleotide position 4205, causing the arginine (R) at amino acid position 1402 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003133244 SCV003816358 uncertain significance not provided 2022-03-02 criteria provided, single submitter clinical testing

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