ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.1467+2T>C

dbSNP: rs1554234163
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669991 SCV000794798 likely pathogenic Merosin deficient congenital muscular dystrophy 2017-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000824157 SCV000965043 pathogenic LAMA2-related muscular dystrophy 2022-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 554368). Disruption of this splice site has been observed in individual(s) with clinical features of muscular dystrophy and features of congenital muscular dystrophy (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 10 of the LAMA2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894, 32904964).
Hadassah Hebrew University Medical Center RCV000991376 SCV001142770 likely pathogenic Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2019-06-20 criteria provided, single submitter clinical testing

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