ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr)

dbSNP: rs2543599320
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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 RCV002867414 SCV003236245 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-09-21 criteria provided, single submitter clinical testing 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.1193_1207del, is a complex sequence change that results in the deletion of 6 and insertion of 1 amino acid(s) in the ACD protein (p.Ser398_Pro403delinsThr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ACD-related conditions. 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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