ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1304C>G (p.Ser435Cys)

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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 RCV005290521 SCV005956375 uncertain significance Inborn genetic diseases 2025-01-31 criteria provided, single submitter clinical testing The c.1304C>G (p.S435C) alteration is located in exon 7 (coding exon 6) of the USH2A gene. This alteration results from a C to G substitution at nucleotide position 1304, causing the serine (S) at amino acid position 435 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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