ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.1126TTC[1] (p.Phe377del)

dbSNP: rs121908405
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851667 SCV002237722 pathogenic not provided 2023-10-25 criteria provided, single submitter clinical testing This variant, c.1129_1131del, results in the deletion of 1 amino acid(s) of the ANKH protein (p.Phe377del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with craniometaphyseal dysplasia (PMID: 11326272). It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects ANKH function (PMID: 30356088). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV002247252 SCV002518470 pathogenic Chondrocalcinosis 2 2022-05-04 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000005501 SCV005439081 pathogenic Craniometaphyseal dysplasia, autosomal dominant 2023-06-22 criteria provided, single submitter clinical testing The observed inframe deletion variant c.1129_1131delp.Phe377del in the ANKH gene has been reported previously in individuals with craniometaphyseal dysplasia. Experimental studies have shown that this variant affects ANKH function Nürnberg P, et al., 2001; Kanaujiya J, et al., 2018. This variant is absent in the gnomAD Exomes. This p.Phe377del causes deletion of amino acid Phenylalanine at position 377. This variant has been reported to the ClinVar database as Pathogenic. This variant is predicted to cause changes in the protein length resulting from in-frame deletion. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005501 SCV000025683 pathogenic Craniometaphyseal dysplasia, autosomal dominant 2001-06-01 no assertion criteria provided literature only

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