ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.2T>C (p.Met1Thr)

dbSNP: rs1013345784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668625 SCV000793258 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2017-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767964 SCV004579384 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2023-09-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553224). Disruption of the initiator codon has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 9950362, 18218046). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the NAGLU mRNA. The next in-frame methionine is located at codon 157.
Fulgent Genetics, Fulgent Genetics RCV003767964 SCV005646048 likely pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2024-05-22 criteria provided, single submitter clinical testing

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