ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.160C>T (p.Arg54Cys)

gnomAD frequency: 0.00030  dbSNP: rs146026019
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000347003 SCV000411022 uncertain significance Autosomal recessive congenital ichthyosis 5 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV002521196 SCV003606378 uncertain significance Inborn genetic diseases 2021-10-22 criteria provided, single submitter clinical testing The c.160C>T (p.R54C) alteration is located in exon 3 (coding exon 1) of the CYP4F22 gene. This alteration results from a C to T substitution at nucleotide position 160, causing the arginine (R) at amino acid position 54 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV003542297 SCV004245440 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine RCV004556056 SCV005045333 uncertain significance Bladder exstrophy-epispadias-cloacal extrophy complex criteria provided, single submitter research

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