ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.65G>A (p.Gly22Glu)

gnomAD frequency: 0.00001  dbSNP: rs1857288713
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837286 SCV002097808 uncertain significance Schuurs-Hoeijmakers syndrome 2021-01-22 criteria provided, single submitter clinical testing The c.65G>A (p.Gly22Glu) variant identified in the PACS1 gene substitutes a moderately conserved Glycine for Glutamic Acid at amino acid 22/964 (exon 1/24). This variant is found with low frequency in gnomAD (3 heterozygotes, 0 homozygotes; allele frequency: 1.98e-5) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms do not agree on the function of this variant, as it is predicted both Damaging (SIFT; score:0.00) and Benign (REVEL; 0.03099) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. Given the lack of compelling evidence for its pathogenicity, the c.65G>A (p.Gly22Glu) variant identified in the PACS1 gene is reported as a Variant of Uncertain Significance.

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