ClinVar Miner

Submissions for variant NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser)

gnomAD frequency: 0.00002  dbSNP: rs587783025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360264 SCV001556175 uncertain significance not provided 2022-11-20 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 156397). This missense change has been observed in individual(s) with Leber congenital amaurosis (PMID: 25445212). This variant is present in population databases (rs587783025, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 35 of the GUCA1B protein (p.Gly35Ser).
Molecular Diagnostics Laboratory, Seoul National University Hospital RCV000144479 SCV000189614 uncertain significance Leber congenital amaurosis 2014-09-18 no assertion criteria provided clinical testing

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