ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5891G>A (p.Arg1964His)

dbSNP: rs149465057
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066623 SCV001231638 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001066623 SCV002770322 uncertain significance not provided 2022-12-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002554494 SCV003700015 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.5891G>A (p.R1964H) alteration is located in exon 30 (coding exon 29) of the USH2A gene. This alteration results from a G to A substitution at nucleotide position 5891, causing the arginine (R) at amino acid position 1964 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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