ClinVar Miner

Submissions for variant NM_000824.5(GLRB):c.1070_1078del (p.Pro357_Val360delinsLeu)

dbSNP: rs1205039740
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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 RCV002829673 SCV003218653 uncertain significance Hyperekplexia 2 2022-07-07 criteria provided, single submitter clinical testing This variant, c.1070_1078del, is a complex sequence change that results in the deletion of 4 and insertion of 1 amino acid(s) in the GLRB protein (p.Pro357_Val360delinsLeu). This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GLRB-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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