ClinVar Miner

Submissions for variant NM_012418.4(FSCN2):c.1025G>A (p.Arg342Gln)

gnomAD frequency: 0.00007  dbSNP: rs374441539
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625406 SCV000745256 uncertain significance Retinitis pigmentosa 30 2016-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001212477 SCV001384060 uncertain significance not provided 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 342 of the FSCN2 protein (p.Arg342Gln). This variant is present in population databases (rs374441539, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FSCN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 522327). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Clinical Genetics, Academic Medical Center RCV001212477 SCV001924850 uncertain significance not provided no assertion criteria provided clinical testing

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