ClinVar Miner

Submissions for variant NM_005262.3(GFER):c.373C>T (p.Gln125Ter)

gnomAD frequency: 0.00007  dbSNP: rs771809901
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199819 SCV000251534 pathogenic not provided 2012-09-26 criteria provided, single submitter clinical testing p.Gln125Stop (CAG>TAG):c.373 C>T in exon 2 of the GFER gene (NM_005262.2). The Q125X nonsense mutation in the GFER gene is predicted to cause loss of normal protein function either through premature protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, it is expected to be a disease-associated mutation. The variant is found in MITONUC-MITOP panel(s).
CeGaT Center for Human Genetics Tuebingen RCV000199819 SCV004133790 pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing GFER: PVS1, PM2
OMIM RCV001254645 SCV001430675 pathogenic Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 2020-08-19 no assertion criteria provided literature only

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