ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.385G>A (p.Val129Ile)

gnomAD frequency: 0.00006  dbSNP: rs115491121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000952015 SCV001098480 likely benign Schuurs-Hoeijmakers syndrome 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001638020 SCV001849623 benign not provided 2019-12-19 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000952015 SCV002495883 uncertain significance Schuurs-Hoeijmakers syndrome 2021-06-16 criteria provided, single submitter clinical testing PACS1 NM_018026.3 exon 2 p.Val129Ile (c.385G>A): This variant has not been reported in the literature but is present in 0.002% (2/68022) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/11-66193514-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:772455). This variant amino acid Isoleucine (Ile) is present in >20 species including mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV003970734 SCV004777501 likely benign PACS1-related disorder 2020-02-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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