ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.185C>T (p.Ala62Val)

gnomAD frequency: 0.00012  dbSNP: rs145393882
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433201 SCV000516825 likely benign not specified 2016-03-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001063987 SCV001228859 uncertain significance not provided 2024-12-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 62 of the PHEX protein (p.Ala62Val). This variant is present in population databases (rs145393882, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with clinical features of hypophosphatemia (PMID: 34633109; internal data). ClinVar contains an entry for this variant (Variation ID: 379615). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Revvity Omics, Revvity RCV003133256 SCV003814921 uncertain significance Familial X-linked hypophosphatemic vitamin D refractory rickets 2022-06-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003133256 SCV005682775 likely benign Familial X-linked hypophosphatemic vitamin D refractory rickets 2024-04-10 criteria provided, single submitter clinical testing

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