ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.1096G>T (p.Gly366Trp)

dbSNP: rs571714796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002249459 SCV002520096 likely pathogenic not provided 2022-05-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31430258, 35551457, 28728837)
OMIM RCV000760145 SCV000889952 pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3 2023-05-26 no assertion criteria provided literature only

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