ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.808C>T (p.Arg270Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002419419 SCV002678503 uncertain significance Inborn genetic diseases 2017-10-27 criteria provided, single submitter clinical testing The p.R270C variant (also known as c.808C>T), located in coding exon 6 of the PACS1 gene, results from a C to T substitution at nucleotide position 808. The arginine at codon 270 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003653619 SCV004516818 uncertain significance Schuurs-Hoeijmakers syndrome 2023-03-31 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1761934). This variant has not been reported in the literature in individuals affected with PACS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 270 of the PACS1 protein (p.Arg270Cys).

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