ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.6323A>T (p.Asp2108Val)

gnomAD frequency: 0.00001  dbSNP: rs921444831
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721345 SCV005327108 uncertain significance not provided 2024-01-19 criteria provided, single submitter clinical testing Reported as a paternally inherited variant in a patient with congenital diaphragmatic hernia who also harbored maternally inherited variants in the FREM2 and ROBO4 genes (PMID: 29618029); Not observed at significant frequency 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: 29618029)
Fulgent Genetics, Fulgent Genetics RCV005033909 SCV005670205 uncertain significance Fraser syndrome 1 2024-01-22 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV000578084 SCV000484670 risk factor Congenital diaphragmatic hernia 2016-11-09 no assertion criteria provided research

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