ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla) (rs1469781984)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667105 SCV000791503 uncertain significance Mucopolysaccharidosis, MPS-III-B 2017-05-17 criteria provided, single submitter clinical testing
Invitae RCV001240804 SCV001413779 uncertain significance Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2019-08-09 criteria provided, single submitter clinical testing This variant, c.202_203insCCG, results in the insertion of 1 amino acid(s) to the NAGLU protein (p.Leu67_Gly68insAla), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with NAGLU-related conditions. ClinVar contains an entry for this variant (Variation ID: 551933). 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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