ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) (rs139362350)

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Total submissions: 4
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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 Clinical Services Laboratory,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 RCV000755376 SCV000604947 likely benign not provided 2018-04-08 criteria provided, single submitter clinical testing The PSTPIP1 c.657A>C;p.Gln219His variant (rs139362350), to our knowledge, is not been published in the literature, but is reported in a scientific abstract in an individual with another de novo variant in PSTPIP1 (see link below). Additionally, ARUP laboratories has detected this variant in an individual with another molecular explanation for disease. This variant is found in the African population with an overall allele frequency of 0.6% (142/24012 alleles, including 1 homozygote) in the Genome Aggregation Database. The glutamine at codon 219 is conserved across a variety of species but computational algorithms (SIFT, PolyPhen-2) do not reach a consensus as to the effect of this variant on protein function. Considering available information, this variant is classified as likely benign. References: Link to abstract: http://www.ashg.org/2012meeting/abstracts/fulltext/f120123343.htm
Invitae RCV000337501 SCV000642084 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2020-11-27 criteria provided, single submitter clinical testing

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