ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.166G>A (p.Val56Met)

dbSNP: rs104894277
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000000510 SCV000791881 likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2017-05-30 criteria provided, single submitter clinical testing
Invitae RCV000000510 SCV000957583 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2023-07-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 481). This missense change has been observed in individual(s) with biopterin-deficient hyperphenylalaninemia (PMID: 9450907, 23138986). This variant is present in population databases (rs104894277, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 56 of the PTS protein (p.Val56Met).
Genome-Nilou Lab RCV000000510 SCV002014501 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000000510 SCV004207146 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2023-08-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000000510 SCV004238605 likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2023-06-30 criteria provided, single submitter clinical testing
OMIM RCV000000510 SCV000020659 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 1998-01-01 no assertion criteria provided literature only
Natera, Inc. RCV000000510 SCV001452592 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2020-09-16 no assertion criteria provided clinical testing

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