ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.423_425del (p.Phe142del)

dbSNP: rs1555621579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667347 SCV000791781 uncertain significance Mucopolysaccharidosis, MPS-III-B 2017-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532063 SCV002975749 uncertain significance Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2022-06-28 criteria provided, single submitter clinical testing This variant, c.423_425del, results in the deletion of 1 amino acid(s) of the NAGLU protein (p.Phe142del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis type IIIB (PMID: 9950362). ClinVar contains an entry for this variant (Variation ID: 552133). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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