ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.155A>G (p.Asn52Ser) (rs104894275)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000000508 SCV000636854 pathogenic BH4-deficient hyperphenylalaninemia A 2020-09-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 52 of the PTS protein (p.Asn52Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs104894275, ExAC 0.2%). This variant is one of the most common PTS deficiency mutation in Southern Chinese population (PMID: 11438997). It has been reported as compound heterozygous (in trans) and as homozygous in multiple individuals and families affected with PTS deficiency and segregates with disease (PMID: 8707300, 17160954, 9450907). ClinVar contains an entry for this variant (Variation ID: 479). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000508 SCV000020657 pathogenic BH4-deficient hyperphenylalaninemia A 1998-01-01 no assertion criteria provided literature only
Counsyl RCV000000508 SCV000790852 pathogenic BH4-deficient hyperphenylalaninemia A 2019-01-29 no assertion criteria provided clinical testing
SingHealth Duke-NUS Institute of Precision Medicine RCV000000508 SCV000853173 uncertain significance BH4-deficient hyperphenylalaninemia A 2017-06-07 no assertion criteria provided curation
Natera, Inc. RCV001271442 SCV001452591 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2020-09-16 no assertion criteria provided clinical testing

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