ClinVar Miner

Submissions for variant NM_001038603.3(MARVELD2):c.880_890del (p.Phe294fs)

dbSNP: rs770042200
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488026 SCV000575424 likely pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000488026 SCV001168748 likely pathogenic not provided 2018-07-30 criteria provided, single submitter clinical testing The c.880_890del11 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It causes a frameshift starting with codon Phenylalanine 294, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Phe294ArgfsX17. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We consider this variant to be likely pathogenic.
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375257 SCV001571735 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate, PM3_Supporting

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