ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.3628A>G (p.Ile1210Val)

gnomAD frequency: 0.00014  dbSNP: rs147291222
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538799 SCV000658672 likely benign LAMA2-related muscular dystrophy 2025-01-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508558 SCV001714785 uncertain significance not provided 2021-04-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001508558 SCV003814041 uncertain significance not provided 2020-08-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001508558 SCV004229762 uncertain significance not provided 2022-12-05 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
Ambry Genetics RCV004024401 SCV004895577 uncertain significance Inborn genetic diseases 2023-10-02 criteria provided, single submitter clinical testing The c.3628A>G (p.I1210V) alteration is located in exon 25 (coding exon 25) of the LAMA2 gene. This alteration results from a A to G substitution at nucleotide position 3628, causing the isoleucine (I) at amino acid position 1210 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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