ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.844G>A (p.Asp282Asn) (rs199475582)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411380 SCV000485610 likely pathogenic Phenylketonuria 2016-01-13 criteria provided, single submitter clinical testing
Invitae RCV000411380 SCV001381412 pathogenic Phenylketonuria 2019-09-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 282 of the PAH protein (p.Asp282Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs199475582, ExAC 0.002%). This variant has been observed in combination with another PAH variant in individuals affected with PAH-related conditions (PMID: 22112818, 26666653, 23430918, 22526846). ClinVar contains an entry for this variant (Variation ID: 102874). This variant has been reported to affect PAH protein function (PMID: 11161839, 17924342). For these reasons, this variant has been classified as Pathogenic.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089135 SCV000119746 not provided not provided no assertion provided not provided

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