ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1349G>T (p.Gly450Val)

dbSNP: rs2527434496
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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 RCV003373451 SCV004071970 uncertain significance Inborn genetic diseases 2023-06-26 criteria provided, single submitter clinical testing The c.1349G>T (p.G450V) alteration is located in exon 8 (coding exon 7) of the USH2A gene. This alteration results from a G to T substitution at nucleotide position 1349, causing the glycine (G) at amino acid position 450 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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