ClinVar Miner

Submissions for variant NC_000016.10:g.67660263_67660288dup

dbSNP: rs1339425052
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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 RCV001373233 SCV001569938 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2020-04-06 criteria provided, single submitter clinical testing 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ACD cause disease. This variant has not been reported in the literature in individuals with ACD-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Asn74Lysfs*19) in the ACD gene. It is expected to result in an absent or disrupted protein product.

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