ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup)

dbSNP: rs1555621404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669799 SCV000794585 uncertain significance Mucopolysaccharidosis, MPS-III-B 2017-09-29 criteria provided, single submitter clinical testing
Invitae RCV001861782 SCV002208351 uncertain significance Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2021-12-17 criteria provided, single submitter clinical testing This variant, c.20_31dup, results in the insertion of 4 amino acid(s) of the NAGLU protein (p.Ala7_Val10dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NAGLU-related conditions. ClinVar contains an entry for this variant (Variation ID: 554211). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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