ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.313A>G (p.Ile105Val)

gnomAD frequency: 0.00005  dbSNP: rs371493398
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept Of Ophthalmology, Nagoya University RCV003887979 SCV004707750 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Ambry Genetics RCV004035451 SCV004937582 uncertain significance Inborn genetic diseases 2024-01-24 criteria provided, single submitter clinical testing The c.313A>G (p.I105V) alteration is located in exon 5 (coding exon 3) of the RDH12 gene. This alteration results from a A to G substitution at nucleotide position 313, causing the isoleucine (I) at amino acid position 105 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277611 SCV001464575 uncertain significance Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing

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