ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.9185A>G (p.Asn3062Ser)

gnomAD frequency: 0.00101  dbSNP: rs553840761
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245103 SCV001418369 likely benign not provided 2024-10-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001245103 SCV004157475 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing EYS: BP4
Ambry Genetics RCV005340724 SCV005999253 uncertain significance Inborn genetic diseases 2024-12-31 criteria provided, single submitter clinical testing The c.9185A>G (p.N3062S) alteration is located in exon 43 (coding exon 40) of the EYS gene. This alteration results from a A to G substitution at nucleotide position 9185, causing the asparagine (N) at amino acid position 3062 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001278441 SCV001465454 uncertain significance Autosomal recessive retinitis pigmentosa 2020-07-25 no assertion criteria provided clinical testing

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