ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.727C>T (p.Pro243Ser)

gnomAD frequency: 0.00023  dbSNP: rs143474305
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542235 SCV000628124 benign Mucopolysaccharidosis, MPS-II 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528309 SCV003738033 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.727C>T (p.P243S) alteration is located in exon 6 (coding exon 6) of the IDS gene. This alteration results from a C to T substitution at nucleotide position 727, causing the proline (P) at amino acid position 243 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529914 SCV001744222 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529914 SCV001973266 likely benign not provided no assertion criteria provided clinical testing

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