ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) (rs115230894)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000727289 SCV000284783 likely benign not provided 2019-03-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000251515 SCV000306958 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281394 SCV000440095 likely benign Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337880 SCV000440096 likely benign Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390791 SCV000440097 likely benign Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312098 SCV000440098 likely benign Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000727289 SCV000581748 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing The R544Q variant previously has been reported previously as a rare variant in association with familial hypocalciuric hypercalcemia (FHH) (Nissen et al., 2012). It is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). R544Q is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties and occurs at a position that is conserved in mammals. Missense variants in nearby residues (C542R, C546S, G549R) have been reported in the Human Gene Mutation Database in association with hypocalciuric hypercalcaemia (Stenson et al., 2014), supporting the functional importance of this region of the protein. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727289 SCV000707277 uncertain significance not provided 2017-04-14 criteria provided, single submitter clinical testing

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