ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.490C>A (p.Pro164Thr)

dbSNP: rs1407678909
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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 RCV001895822 SCV002153728 uncertain significance Erythrocytosis, familial, 3 2021-08-31 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 164 of the EGLN1 protein (p.Pro164Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine.
Ambry Genetics RCV004041315 SCV003737731 uncertain significance not specified 2022-12-13 criteria provided, single submitter clinical testing The c.490C>A (p.P164T) alteration is located in exon 1 (coding exon 1) of the EGLN1 gene. This alteration results from a C to A substitution at nucleotide position 490, causing the proline (P) at amino acid position 164 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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