ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)

gnomAD frequency: 0.00101  dbSNP: rs151275800
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000893218 SCV001037136 likely benign PHGDH deficiency 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000893218 SCV001253790 uncertain significance PHGDH deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV002264057 SCV002544304 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing PHGDH: BP4
Ambry Genetics RCV002540115 SCV003527436 likely benign Inborn genetic diseases 2021-06-18 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.
Natera, Inc. RCV000893218 SCV002094700 benign PHGDH deficiency 2019-10-21 no assertion criteria provided clinical testing

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