ClinVar Miner

Submissions for variant NM_012418.4(FSCN2):c.1105G>A (p.Gly369Ser)

dbSNP: rs376938035
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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 RCV001057412 SCV001221904 uncertain significance not provided 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 369 of the FSCN2 protein (p.Gly369Arg). It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs376938035, gnomAD 0.04%). 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: 852736). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this missense change alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 34996991). 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.
Fulgent Genetics, Fulgent Genetics RCV002497431 SCV002777748 uncertain significance Retinitis pigmentosa 30 2022-02-25 criteria provided, single submitter clinical testing

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