ClinVar Miner

Submissions for variant NM_001002755.4(NFU1):c.154T>G (p.Phe52Val)

gnomAD frequency: 0.00001  dbSNP: rs770513953
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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 RCV002043189 SCV002307489 uncertain significance Multiple mitochondrial dysfunctions syndrome 1 2022-01-14 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 52 of the NFU1 protein (p.Phe52Val). This variant is present in population databases (rs770513953, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NFU1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002548173 SCV003726954 uncertain significance Inborn genetic diseases 2024-08-01 criteria provided, single submitter clinical testing The c.154T>G (p.F52V) alteration is located in exon 2 (coding exon 2) of the NFU1 gene. This alteration results from a T to G substitution at nucleotide position 154, causing the phenylalanine (F) at amino acid position 52 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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