Submissions for variant NM_006343.3(MERTK):c.225del (p.Gly76fs)

gnomAD frequency: 0.00001  dbSNP: rs527236083

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV002277279	SCV002567302	pathogenic	not provided	2022-02-22	criteria provided, single submitter	clinical testing	Frameshift 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.; This variant is associated with the following publications: (PMID: 31054281, 33090715, 32100970, 25324289)
Labcorp Genetics (formerly Invitae), Labcorp	RCV002277279	SCV003524678	pathogenic	not provided	2022-07-16	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: 143139). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 25324289, 31054281). This variant is present in population databases (rs527236083, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gly76Glufs*3) in the MERTK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MERTK are known to be pathogenic (PMID: 24265693, 29659094).
Dept Of Ophthalmology, Nagoya University	RCV003888565	SCV004705462	pathogenic	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV004796036	SCV005418328	pathogenic	Retinitis pigmentosa 38		criteria provided, single submitter	clinical testing	PM2_Supporting+PVS1+PM3_Strong+PP4
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132664	SCV000172615	probable-pathogenic	Retinitis pigmentosa		no assertion criteria provided	not provided	Converted during submission to Likely pathogenic.