ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5075A>C (p.Asp1692Ala)

dbSNP: rs772976026
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003204696 SCV003892110 uncertain significance Inborn genetic diseases 2023-02-07 criteria provided, single submitter clinical testing The c.5075A>C (p.D1692A) alteration is located in exon 25 (coding exon 24) of the USH2A gene. This alteration results from a A to C substitution at nucleotide position 5075, causing the aspartic acid (D) at amino acid position 1692 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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