ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.13C>A (p.Pro5Thr)

dbSNP: rs121908410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005509 SCV000025691 pathogenic Chondrocalcinosis 2 2003-09-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004734498 SCV005363219 likely pathogenic ANKH-related disorder 2024-09-17 no assertion criteria provided clinical testing The ANKH c.13C>A variant is predicted to result in the amino acid substitution p.Pro5Thr. This variant has been reported to segregate with disease in two families with chondrocalcinosis (Williams et al. 2003. PubMed ID: 13130483). Additionally, alternate missense variants affecting this amino acid (p.Pro5Leu, p.Pro5Ser) have been reported as pathogenic (Williams et al. 2002. PubMed ID: 12297989; Gruber et al. 2012. PubMed ID: 22647861). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as likely pathogenic.

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