ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.6266_6267insGGATCTTACTTCCAAAAG (p.Asn2089delinsLysAspLeuThrSerLysSer)

dbSNP: rs2114765909
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001878436 SCV002125932 uncertain significance LAMA2-related muscular dystrophy 2021-05-31 criteria provided, single submitter clinical testing 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. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant, c.6267delins19, is a complex sequence change that results in the deletion of 1 and insertion of 7 amino acid(s) in the LAMA2 protein (p.Asn2089delins7). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LAMA2-related conditions.

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