ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs)

dbSNP: rs727503992
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790714 SCV000700445 pathogenic not provided 2013-01-21 criteria provided, single submitter clinical testing
Counsyl RCV000591983 SCV000792939 likely pathogenic Merosin deficient congenital muscular dystrophy 2017-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000798417 SCV000938034 pathogenic LAMA2-related muscular dystrophy 2024-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1208Argfs*27) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894, 32904964). This variant is present in population databases (rs763713872, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 167242). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000790714 SCV002015219 likely pathogenic not provided 2025-02-12 criteria provided, single submitter clinical testing Reported previously with a second variant (phase unknown) in an individual with congenital hydrocephalus; reported using alternate nomenclature p.T1207fs (PMID: 33077954); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 9674786, 30055037, 33077954)
Baylor Genetics RCV000591983 SCV004190423 likely pathogenic Merosin deficient congenital muscular dystrophy 2023-10-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005031663 SCV005667074 likely pathogenic Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2024-05-27 criteria provided, single submitter clinical testing

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