ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6584A>G (p.Asn2195Ser)

dbSNP: rs1668200483
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003376930 SCV004093658 uncertain significance Inborn genetic diseases 2023-08-15 criteria provided, single submitter clinical testing The c.6584A>G (p.N2195S) alteration is located in exon 34 (coding exon 33) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 6584, causing the asparagine (N) at amino acid position 2195 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Dept Of Ophthalmology, Nagoya University RCV003889298 SCV004707966 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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