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

gnomAD frequency: 0.00015  dbSNP: rs143474305

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000542235	SCV000628124	benign	Mucopolysaccharidosis, MPS-II	2024-10-23	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
PreventionGenetics, part of Exact Sciences	RCV003915493	SCV004733033	likely benign	IDS-related disorder	2022-06-17	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).