ClinVar Miner

Submissions for variant NM_012418.4(FSCN2):c.833A>G (p.Asn278Ser)

gnomAD frequency: 0.00002  dbSNP: rs988890666
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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 RCV001048035 SCV001212024 uncertain significance not provided 2023-12-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 278 of the FSCN2 protein (p.Asn278Ser). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 845050). 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262935 SCV001440992 uncertain significance Retinitis pigmentosa 30 2019-01-01 criteria provided, single submitter clinical testing

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