ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) (rs281865026)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000031967 SCV000054659 pathologic Pseudo-Hurler polydystrophy 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000820177 SCV000960877 pathogenic I cell disease; Pseudo-Hurler polydystrophy 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 399 of the GNPTAB protein (p.Ser399Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with GNPTAB-related conditions (PMID: 16630736, 27710913, 19659762, 23566849). ClinVar contains an entry for this variant (Variation ID: 38413). This variant has been reported to affect GNPTAB protein function (PMID: 25505245, 24550498, 24375680). For these reasons, this variant has been classified as Pathogenic.

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