ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His)

gnomAD frequency: 0.00166  dbSNP: rs139362350
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236288 SCV000292673 benign not specified 2015-06-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina RCV000337501 SCV000394002 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000337501 SCV000604947 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000337501 SCV000642084 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262853 SCV002542892 likely benign Autoinflammatory syndrome 2021-04-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000755376 SCV002545292 benign not provided 2022-05-01 criteria provided, single submitter clinical testing PSTPIP1: BS1, BS2

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