ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.2T>C (p.Met1Thr) (rs374403765)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532735 SCV000658663 pathogenic Laminin alpha 2-related dystrophy 2018-06-04 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the LAMA2 mRNA. The next in-frame methionine occurs in exon 2 (p.Met65). While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in the literature in an individual affected with merosin-deficient muscular dystrophy, however it is unclear if a second variant was identified in this individual (PMID: 9674786). In addition, this variant has been observed on the opposite chromosome (in trans) from pathogenic variants in individuals affected with merosin-deficient muscular dystrophy in the Leiden Open-source Variation Database (PMID: 2152033). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 477459). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090685 SCV001246362 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Counsyl RCV000672881 SCV000798030 likely pathogenic Merosin deficient congenital muscular dystrophy 2018-02-20 no assertion criteria provided clinical testing

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