ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1271C>T (p.Ala424Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003052741 SCV003444990 likely benign Mucopolysaccharidosis type 1 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294415 SCV003991566 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.1271C>T (p.A424V) alteration is located in exon 9 (coding exon 9) of the IDUA gene. This alteration results from a C to T substitution at nucleotide position 1271, causing the alanine (A) at amino acid position 424 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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