ClinVar Miner

Submissions for variant NM_012418.4(FSCN2):c.829G>A (p.Val277Ile)

dbSNP: rs181420326
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000423345 SCV000511328 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV000764149 SCV000895141 uncertain significance Retinitis pigmentosa 30 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000423345 SCV001217729 uncertain significance not provided 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 277 of the FSCN2 protein (p.Val277Ile). This variant is present in population databases (rs181420326, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. 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: 377132). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004022273 SCV003684258 uncertain significance not specified 2024-04-12 criteria provided, single submitter clinical testing The c.829G>A (p.V277I) alteration is located in exon 2 (coding exon 2) of the FSCN2 gene. This alteration results from a G to A substitution at nucleotide position 829, causing the valine (V) at amino acid position 277 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV000423345 SCV004144632 benign not provided 2022-10-01 criteria provided, single submitter clinical testing FSCN2: BS1, BS2

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