ClinVar Miner

Submissions for variant NM_012418.4(FSCN2):c.673G>T (p.Asp225Tyr)

dbSNP: rs782333124
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001981282 SCV002284002 uncertain significance not provided 2023-09-05 criteria provided, single submitter clinical testing 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1492849). This variant has not been reported in the literature in individuals affected with FSCN2-related conditions. This variant is present in population databases (rs782333124, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 225 of the FSCN2 protein (p.Asp225Tyr).
Dept Of Ophthalmology, Nagoya University RCV003888980 SCV004706254 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Ambry Genetics RCV004045380 SCV004876141 uncertain significance not specified 2023-12-15 criteria provided, single submitter clinical testing The c.673G>T (p.D225Y) alteration is located in exon 1 (coding exon 1) of the FSCN2 gene. This alteration results from a G to T substitution at nucleotide position 673, causing the aspartic acid (D) at amino acid position 225 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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