ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10487A>C (p.Glu3496Ala)

gnomAD frequency: 0.00005  dbSNP: rs142594852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001476094 SCV001680298 likely benign not provided 2022-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003264043 SCV003982065 uncertain significance Inborn genetic diseases 2023-05-26 criteria provided, single submitter clinical testing The c.10487A>C (p.E3496A) alteration is located in exon 53 (coding exon 52) of the USH2A gene. This alteration results from a A to C substitution at nucleotide position 10487, causing the glutamic acid (E) at amino acid position 3496 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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