ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.14C>T (p.Pro5Leu)

dbSNP: rs121908409
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719627 SCV005325042 likely pathogenic not provided 2024-01-03 criteria provided, single submitter clinical testing Reported in a patient with chondrocalcinosis in published literature (PMID: 12297989); Published functional studies demonstrate this variant leads to delayed localization and increased expression (PMID: 15818664, 32366894); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 17067391, 19088867, 13130483, 24747173, 15818664, 32366894, 20186813, 12297989)
OMIM RCV000005508 SCV000025690 pathogenic Chondrocalcinosis 2 2002-10-01 no assertion criteria provided literature only

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