ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)

gnomAD frequency: 0.00043  dbSNP: rs150763745
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247276 SCV001420688 likely benign Mucopolysaccharidosis type 1 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480846 SCV002779883 uncertain significance Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 2021-07-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987813 SCV004804390 uncertain significance not specified 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034891 SCV004885447 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.494G>A (p.G165D) alteration is located in exon 5 (coding exon 5) of the IDUA gene. This alteration results from a G to A substitution at nucleotide position 494, causing the glycine (G) at amino acid position 165 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001247276 SCV002075292 uncertain significance Mucopolysaccharidosis type 1 2020-04-22 no assertion criteria provided clinical testing

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