ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.569G>A (p.Ser190Asn)

gnomAD frequency: 0.00011  dbSNP: rs371107041
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059834 SCV001224482 uncertain significance Leber congenital amaurosis 13 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 190 of the RDH12 protein (p.Ser190Asn). This variant is present in population databases (rs371107041, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with RDH12-related conditions. ClinVar contains an entry for this variant (Variation ID: 854728). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RDH12 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002553383 SCV003681994 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.569G>A (p.S190N) alteration is located in exon 7 (coding exon 5) of the RDH12 gene. This alteration results from a G to A substitution at nucleotide position 569, causing the serine (S) at amino acid position 190 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001275432 SCV001460582 uncertain significance Leber congenital amaurosis 2020-01-24 no assertion criteria provided clinical testing

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