ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.5562+5G>C (rs771046502)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723487 SCV000229892 pathogenic not provided 2014-08-05 criteria provided, single submitter clinical testing
Counsyl RCV000177930 SCV000799496 likely pathogenic Merosin deficient congenital muscular dystrophy 2018-04-23 criteria provided, single submitter clinical testing
Invitae RCV000700168 SCV000828913 pathogenic Laminin alpha 2-related dystrophy 2020-09-02 criteria provided, single submitter clinical testing This sequence change falls in intron 38 of the LAMA2 gene. It does not directly change the encoded amino acid sequence of the LAMA2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs771046502, ExAC 0.003%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with muscular dystrophy (PMID: 10611118). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant has been reported as homozygous or in combination with another LAMA2 variant in individuals affected with muscular dystrophy (PMID: 10611118, 20207543, 12552556). This variant is also known as IVS37+5G>C or c.5611+5G>C in the literature. ClinVar contains an entry for this variant (Variation ID: 197024). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723487 SCV001154877 likely pathogenic not provided 2020-12-01 criteria provided, single submitter clinical testing

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