ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser)

dbSNP: rs137852540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622306 SCV000742068 likely pathogenic Inborn genetic diseases 2017-05-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV001328985 SCV001520258 likely pathogenic Arts syndrome 2020-04-02 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000010606 SCV000030832 pathogenic Phosphoribosylpyrophosphate synthetase superactivity 1993-12-15 no assertion criteria provided literature only

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