ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.1856C>T (p.Ala619Val) (rs121918172)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000000941 SCV001589359 pathogenic Mucopolysaccharidosis type 7 2020-01-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 619 of the GUSB protein (p.Ala619Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs121918172, ExAC 0.001%). This variant has been observed in individual(s) with mucopolysaccharidosis Type VII (PMID: 1779626, 2115490, 30653816). ClinVar contains an entry for this variant (Variation ID: 893). This variant has been reported to affect GUSB protein function (PMID: 2115490, 1702266, 7633414, 19224584, 1779626). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000941 SCV000021091 pathogenic Mucopolysaccharidosis type 7 1991-01-01 no assertion criteria provided literature only

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