Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000721914 | SCV000996390 | likely pathogenic | Hyperparathyroidism, transient neonatal | 2019-05-21 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Hyperparathyroidism, transient neonatal, autosomal recessive. The following ACMG Tag(s) were applied: PM2-Supporting; PP3; PS3-Supporting; PP1; PM3. |
Mendelics | RCV000721914 | SCV002519900 | pathogenic | Hyperparathyroidism, transient neonatal | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003546592 | SCV004274157 | uncertain significance | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 223 of the TRPV6 protein (p.Ile223Thr). This variant is present in population databases (rs529924080, gnomAD 0.2%). This missense change has been observed in individuals with chronic pancreatitis and/or transient neonatal hyperparathyroidism (PMID: 29861107, 30820485, 31930989, 32383311, 36599151). ClinVar contains an entry for this variant (Variation ID: 590766). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on TRPV6 function (PMID: 29861107, 31930989, 32383311). 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. |
OMIM | RCV000721914 | SCV000853065 | pathogenic | Hyperparathyroidism, transient neonatal | 2018-11-14 | no assertion criteria provided | literature only |