ClinVar Miner

Submissions for variant NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr)

gnomAD frequency: 0.00006  dbSNP: rs529924080
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Total submissions: 4
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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

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