ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.1064-1G>A

gnomAD frequency: 0.00001  dbSNP: rs780441868
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674198 SCV000799494 uncertain significance Junctional epidermolysis bullosa gravis of Herlitz 2018-04-25 criteria provided, single submitter clinical testing
Invitae RCV002531347 SCV003447319 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the LAMA3 gene. It does not change the encoded amino acid sequence of the LAMA3 protein. This variant is present in population databases (rs780441868, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with LAMA3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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