ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.361A>G (p.Thr121Ala)

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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 RCV002301334 SCV002590301 uncertain significance not provided 2022-08-24 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with NR2F1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 121 of the NR2F1 protein (p.Thr121Ala).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700719 SCV005203260 uncertain significance not specified 2024-07-08 criteria provided, single submitter clinical testing Variant summary: NR2F1 c.361A>G (p.Thr121Ala) results in a non-conservative amino acid change located in the Zinc finger, nuclear hormone receptor-type (IPR001628) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251230 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.361A>G in individuals affected with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1715574). Based on the evidence outlined above, the variant was classified as uncertain significance.

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