Submissions for variant NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr)

dbSNP: rs1565799723

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000761554	SCV002165613	uncertain significance	Sulfite oxidase deficiency	2022-10-13	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 427 of the SUOX protein (p.Ser427Tyr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SUOX-related conditions. ClinVar contains an entry for this variant (Variation ID: 623470). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.
GeneReviews	RCV000761554	SCV000891703	pathogenic	Sulfite oxidase deficiency	2017-06-26	no assertion criteria provided	literature only
GenomeConnect - Invitae Patient Insights Network	RCV000761554	SCV004228845	not provided	Sulfite oxidase deficiency		no assertion provided	phenotyping only	Variant interpreted as Uncertain significance and reported on 11-30-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.