ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.831G>A (p.Ser277=)

gnomAD frequency: 0.00006  dbSNP: rs765960304
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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 RCV000812693 SCV000953015 likely benign LAMA2-related muscular dystrophy 2025-01-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001153656 SCV001314956 uncertain significance Congenital muscular dystrophy due to partial LAMA2 deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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