ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10240G>A (p.Gly3414Ser)

dbSNP: rs2464408278
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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 RCV002747633 SCV003566422 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.10240G>A (p.G3414S) alteration is located in exon 52 (coding exon 51) of the USH2A gene. This alteration results from a G to A substitution at nucleotide position 10240, causing the glycine (G) at amino acid position 3414 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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