ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu)

dbSNP: rs1733899167
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004031214 SCV005021227 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-28 criteria provided, single submitter clinical testing The p.R149L variant (also known as c.446G>T), located in coding exon 3 of the PHOX2B gene, results from a G to T substitution at nucleotide position 446. The arginine at codon 149 is replaced by leucine, an amino acid with dissimilar properties. This variant was identified in one individual with a clinical diagnosis of congenital central hypoventilation syndrome (Lombardo RC et al. Genet Med, 2018 Dec;20:1538-1543). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
OMIM RCV001078157 SCV001244208 pathogenic Congenital central hypoventilation 2021-08-26 no assertion criteria provided literature only

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