ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.772C>A (p.His258Asn)

dbSNP: rs121918582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005089246 SCV005834241 pathogenic not provided 2025-01-27 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 258 of the PDE6B protein (p.His258Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with congenital stationary night blindness (PMID: 8075643, 28559085). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13107). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PDE6B protein function. Experimental studies have shown that this missense change affects PDE6B function (PMID: 17044014, 28583373). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013986 SCV000034233 pathogenic Congenital stationary night blindness autosomal dominant 2 2007-03-01 no assertion criteria provided literature only

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