ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1209dup (p.Ala404fs)

dbSNP: rs1752614082
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066661 SCV001231676 uncertain significance Congenital contractural arachnodactyly 2022-07-19 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. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 860377). This variant has not been reported in the literature in individuals affected with FBN2-related conditions. This sequence change creates a premature translational stop signal (p.Ala404Serfs*8) in the FBN2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in FBN2 cause disease.

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