ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)

dbSNP: rs104893706
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV000054480 SCV004047201 likely pathogenic Autosomal dominant hypocalcemia 1 criteria provided, single submitter clinical testing The CASR c.2528C>A (p.Ala843Glu) variant has been reported in heterozygous state in individuals affected with Hyperparathyroidism, Neonatal Severe (Egbuna and Brown, 2008). This variant has been submitted to ClinVar as Pathogenic. The p.Ala843Glu variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Ala at position 843 is changed to a Glu changing protein sequence and it might alter its composition and physicochemical properties. The amino acid change p.Ala843Glu in CASR is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic.
OMIM RCV000008847 SCV000029057 pathogenic Bartter syndrome with hypocalcemia 2002-08-31 no assertion criteria provided literature only
OMIM RCV000054480 SCV000082957 pathogenic Autosomal dominant hypocalcemia 1 2002-08-31 no assertion criteria provided literature only

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