ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.56C>G (p.Ala19Gly)

dbSNP: rs1353983410
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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 RCV002231822 SCV000644036 uncertain significance Haddad syndrome 2023-09-10 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. 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. ClinVar contains an entry for this variant (Variation ID: 467731). This missense change has been observed in individual(s) with clinical features of PHOX2B-related conditions (PMID: 33958749). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 19 of the PHOX2B protein (p.Ala19Gly).
Ambry Genetics RCV002350295 SCV002652492 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-20 criteria provided, single submitter clinical testing The p.A19G variant (also known as c.56C>G), located in coding exon 1 of the PHOX2B gene, results from a C to G substitution at nucleotide position 56. The alanine at codon 19 is replaced by glycine, an amino acid with similar 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.
Baylor Genetics RCV003476289 SCV004203984 uncertain significance Neuroblastoma, susceptibility to, 2 2023-08-02 criteria provided, single submitter clinical testing

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