ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.967T>C (p.Tyr323His)

gnomAD frequency: 0.00001  dbSNP: rs782419727
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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 RCV002570748 SCV003288265 uncertain significance Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2022-06-17 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 326 of the POR protein (p.Tyr326His). This variant is present in population databases (rs782419727, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with POR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1199396). 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 disruptive. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692699 SCV005188540 uncertain significance not provided criteria provided, single submitter not provided
Human Developmental Genetics, Institut Pasteur RCV001564029 SCV001787091 uncertain significance Disorder of sexual differentiation 2021-08-16 no assertion criteria provided research

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