ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter)

dbSNP: rs1556019107
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624597 SCV000742039 pathogenic Inborn genetic diseases 2016-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092161 SCV001248542 pathogenic not provided 2018-12-01 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252179 SCV002522725 pathogenic See cases 2021-05-20 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PS4, PM2
GeneDx RCV001092161 SCV002817800 pathogenic not provided 2022-06-28 criteria provided, single submitter clinical testing Nonsense 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: 32552793, 28539120, 35662002)
Labcorp Genetics (formerly Invitae), Labcorp RCV002531897 SCV003445904 pathogenic Borjeson-Forssman-Lehmann syndrome 2022-07-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 521446). This premature translational stop signal has been observed in individual(s) with clinical features of PHF6-related conditions (PMID: 28539120). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg274*) in the PHF6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHF6 are known to be pathogenic (PMID: 12415272, 24092917, 25099957, 26648834).

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