ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.942C>T (p.Ser314=)

gnomAD frequency: 0.00058  dbSNP: rs147731055
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222584 SCV000270772 likely benign not specified 2015-05-17 criteria provided, single submitter clinical testing p.Ser314Ser in exon 7 of PRPS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 33/87762 of chromoso mes (including 12 hemizygous individuals) by the Exome Aggregation Consortium (E xAC, http://exac.broadinstitute.org; dbSNP rs147731055).
Eurofins Ntd Llc (ga) RCV000222584 SCV000343171 benign not specified 2016-07-15 criteria provided, single submitter clinical testing
GeneDx RCV001200509 SCV000522580 benign not provided 2021-03-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19377476)
Labcorp Genetics (formerly Invitae), Labcorp RCV000474888 SCV000561871 benign Charcot-Marie-Tooth Neuropathy X 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200509 SCV001371488 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020600 SCV002683160 likely benign Nephrolithiasis/nephrocalcinosis 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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