ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4030A>G (p.Met1344Val)

gnomAD frequency: 0.00006  dbSNP: rs727503732
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152617 SCV000201927 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Met1244Val vari ant in USH2A has not been previously reported in individuals with hearing loss a nd was absent from large population studies. Methionine (Met) at position 1344 i s not conserved in mammals or evolutionarily distant species and two mammals (gu inea pig, pika) carry a valine (val), raising the possibility that this change m ay be tolerated. Additional computational prediction tools do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the Met1244Val variant is uncertain, the lack of evolutionary c onservation suggest that is more likely to be benign.
Invitae RCV000930617 SCV001076272 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888579 SCV004708015 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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