ClinVar Miner

Submissions for variant NM_182894.3(VSX2):c.862C>T (p.Arg288Trp)

gnomAD frequency: 0.00006  dbSNP: rs76055170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002504392 SCV002815327 uncertain significance Isolated microphthalmia 2; Microphthalmia, isolated, with coloboma 3 2021-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542873 SCV003271052 uncertain significance Isolated microphthalmia 2 2022-03-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 288 of the VSX2 protein (p.Arg288Trp). This variant is present in population databases (rs76055170, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with VSX2-related conditions. ClinVar contains an entry for this variant (Variation ID: 989732). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
3billion, Medical Genetics RCV002504392 SCV005328749 likely benign Isolated microphthalmia 2; Microphthalmia, isolated, with coloboma 3 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.
Natera, Inc. RCV001277624 SCV001464588 uncertain significance Microphthalmia 2020-04-17 no assertion criteria provided clinical testing

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