Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Neuberg Centre For Genomic Medicine, |
RCV003388676 | SCV004100385 | uncertain significance | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | criteria provided, single submitter | clinical testing | The missense variant p.Q1009L in PIEZO1 (NM_001142864.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge.The missense variant c.3026A>T (p.Q1009L) in PIEZO1 (NM_001142864.4) is observed in 8/16948 (0.0472%) alleles from individuals of South Asian background in the gnomAD dataset (Exome Aggregation Consortium et al., 2016), but was not seen in the homozygous state. However this does not represent true population frequency as the variant was covered in fewer than 50% of the individuals. The p.Q1009L missense variant is predicted to be damaging by both SIFT and PolyPhen2. The glutamine residue at codon 1009 of PIEZO1 is conserved in all mammalian species. The nucleotide c.3026 in PIEZO1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance | |
| Ambry Genetics | RCV004961273 | SCV005469183 | uncertain significance | Inborn genetic diseases | 2024-11-10 | criteria provided, single submitter | clinical testing | The c.3026A>T (p.Q1009L) alteration is located in exon 22 (coding exon 22) of the PIEZO1 gene. This alteration results from a A to T substitution at nucleotide position 3026, causing the glutamine (Q) at amino acid position 1009 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |