ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)

dbSNP: rs143680577
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000505761 SCV000196838 likely pathogenic not provided 2019-08-30 criteria provided, single submitter clinical testing Observed in an individual with congenital muscular dystrophy who harbored a second variant on the opposite LAMA2 allele (Oliveira et al., 2018); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26633542, 30055037)
Counsyl RCV000674785 SCV000800182 uncertain significance Merosin deficient congenital muscular dystrophy 2018-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000802006 SCV000941812 uncertain significance LAMA2-related muscular dystrophy 2021-08-12 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 146 of the LAMA2 protein (p.Ser146Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs143680577, ExAC 0.001%). This missense change has been observed in individual(s) with congenital muscular dystrophy type 1A (PMID: 30055037). ClinVar contains an entry for this variant (Variation ID: 162573). 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: "Deleterious"; PolyPhen-2: "Probably 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000505761 SCV002542221 uncertain significance not provided 2021-03-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000674785 SCV004190544 pathogenic Merosin deficient congenital muscular dystrophy 2023-02-13 criteria provided, single submitter clinical testing

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