ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.918dup (p.Val307fs)

gnomAD frequency: 0.00005  dbSNP: rs751861982
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598675 SCV000710064 pathogenic not provided 2022-12-02 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34046058, 33620284, 25943031)
Ambry Genetics RCV001267220 SCV001445401 pathogenic Inborn genetic diseases 2016-05-12 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709985 SCV000840351 not provided PIGT-related disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
OMIM RCV000760144 SCV000889951 pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3 2019-03-12 no assertion criteria provided literature only

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