ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.849C>G (p.Ile283Met)

dbSNP: rs1733869488
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064452 SCV001229356 uncertain significance Haddad syndrome 2023-06-09 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. ClinVar contains an entry for this variant (Variation ID: 858558). This variant has not been reported in the literature in individuals affected with PHOX2B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 283 of the PHOX2B protein (p.Ile283Met).
Sema4, Sema4 RCV002255616 SCV002535425 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-25 criteria provided, single submitter curation
GeneDx RCV002305566 SCV002599803 uncertain significance not provided 2022-05-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002255616 SCV002678980 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-09 criteria provided, single submitter clinical testing The p.I283M variant (also known as c.849C>G), located in coding exon 3 of the PHOX2B gene, results from a C to G substitution at nucleotide position 849. The isoleucine at codon 283 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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