ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr)

dbSNP: rs180177152
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851782 SCV002139095 uncertain significance Charcot-Marie-Tooth Neuropathy X 2021-01-16 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with deafness (PMID: 20021999). ClinVar contains an entry for this variant (Variation ID: 9939). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 87 of the PRPS1 protein (p.Ala87Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.
OMIM RCV000010617 SCV000030843 pathogenic Hearing loss, X-linked 1 2010-01-01 no assertion criteria provided literature only
GeneReviews RCV000010617 SCV002599420 not provided Hearing loss, X-linked 1 no assertion provided literature only

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