ClinVar Miner

Submissions for variant NM_002831.6(PTPN6):c.9-6G>A

gnomAD frequency: 0.00214  dbSNP: rs200900053
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768063 SCV000898917 uncertain significance not provided 2021-03-30 criteria provided, single submitter clinical testing PTPN6 NM_080549.3 intron 2 c.9-6G>A: This variant has not been reported in the literature but has been identified by our institution in 1 individual with neutropenia. This variant is present in 0.2% (69/30602) of South Asian alleles, including 1 homozygote in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/12-7060766-G-A?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may not affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000768063 SCV001102147 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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