ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.688G>C (p.Gly230Arg)

dbSNP: rs1733884523
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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 RCV001209465 SCV001380902 uncertain significance Haddad syndrome 2021-07-31 criteria provided, single submitter clinical testing 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 sequence change replaces glycine with arginine at codon 230 of the PHOX2B protein (p.Gly230Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with PHOX2B-related conditions.
Sema4, Sema4 RCV002258158 SCV002535405 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-22 criteria provided, single submitter curation
Ambry Genetics RCV002258158 SCV002667038 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-30 criteria provided, single submitter clinical testing The p.G230R variant (also known as c.688G>C), located in coding exon 3 of the PHOX2B gene, results from a G to C substitution at nucleotide position 688. The glycine at codon 230 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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