ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.311C>T (p.Ser104Phe)

gnomAD frequency: 0.00113  dbSNP: rs551207815
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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 RCV000459364 SCV000546287 uncertain significance Erythrocytosis, familial, 3 2024-01-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 104 of the EGLN1 protein (p.Ser104Phe). 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 EGLN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 407205). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
GeneDx RCV001764390 SCV002008952 uncertain significance not provided 2020-10-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with a personal or family history including hereditary erythrocytosis and pheochromocytoma (Oliveira et al., 2018; Ben Aim et al., 2019); This variant is associated with the following publications: (PMID: 29790589, 30877234)

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