ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2915C>T (p.Thr972Met) (rs200620134)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711038 SCV000841358 uncertain significance not provided 2018-01-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389528 SCV000440131 likely benign Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288087 SCV000440132 likely benign Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345436 SCV000440133 likely benign Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383567 SCV000440134 likely benign Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000525899 SCV000638059 uncertain significance Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 972 of the CASR protein (p.Thr972Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs200620134, ExAC 0.02%). This variant has been reported in an individual with an atypical presentation of  familial benign hypocalciuric hypercalcemia (FHH) and in his unaffected son (PMID: 25292184).  This variant has also been reported in an individual affected with hyperparathyroidism (PMID: 26646938). ClinVar contains an entry for this variant (Variation ID: 342802). Experimental studies have suggested that this missense change may negatively impact CASR protein function (PMID: 25292184). 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 RCV000664401 SCV000788331 pathogenic Hypocalciuric hypercalcemia, familial, type 1 2018-07-25 no assertion criteria provided literature only

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