ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.1293+6C>T

gnomAD frequency: 0.00012  dbSNP: rs369639320
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951626 SCV001098040 likely benign Schuurs-Hoeijmakers syndrome 2025-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001538937 SCV001756656 benign not provided 2019-07-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818974 SCV002068506 likely benign not specified 2019-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546029 SCV003742006 likely benign Inborn genetic diseases 2022-06-17 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000951626 SCV003920308 likely benign Schuurs-Hoeijmakers syndrome 2022-09-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.01% (3/15282) (https://gnomad.broadinstitute.org/variant/11-66221253-C-T?dataset=gnomad_r3). This variant is present in ClinVar, with multiple labs classifying this variant as Likely benign or Benign (Variation ID:772157). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Computational prediction tools do not suggest that it alters splicing. However, further studies are needed to understand its impact. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.

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