ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.806C>T (p.Thr269Met)

gnomAD frequency: 0.00073  dbSNP: rs149740779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000440925 SCV000511407 uncertain significance not provided 2016-09-14 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000700518 SCV000829276 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 3 2024-11-05 criteria provided, single submitter clinical testing
GeneDx RCV000440925 SCV002818901 uncertain significance not provided 2023-01-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004735504 SCV005352465 likely benign PIGT-related disorder 2024-09-19 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).

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