ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.797C>T (p.Ala266Val)

gnomAD frequency: 0.00001  dbSNP: rs745709595
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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 RCV002232978 SCV000834065 uncertain significance Haddad syndrome 2021-01-26 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with PHOX2B-related conditions. This variant is present in population databases (rs745709595, ExAC 0.02%). This sequence change replaces alanine with valine at codon 266 of the PHOX2B protein (p.Ala266Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.
Ambry Genetics RCV002406644 SCV002675776 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-19 criteria provided, single submitter clinical testing The p.A266V variant (also known as c.797C>T), located in coding exon 3 of the PHOX2B gene, results from a C to T substitution at nucleotide position 797. The alanine at codon 266 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. 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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