ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.244-29A>G

dbSNP: rs1654085401
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261622 SCV001438908 likely pathogenic Pyknodysostosis criteria provided, single submitter clinical testing
Baylor Genetics RCV001261622 SCV001521401 likely pathogenic Pyknodysostosis 2019-12-06 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002537623 SCV003472542 pathogenic not provided 2022-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 982106). This variant has been observed in individuals with clinical features of pycnodysostosis (PMID: 29620724, 33963797). It is commonly reported in individuals of Saudi Arabia ancestry (PMID: 33963797). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the CTSK gene. It does not directly change the encoded amino acid sequence of the CTSK protein.
Genome-Nilou Lab RCV001261622 SCV004049732 likely pathogenic Pyknodysostosis 2023-04-11 criteria provided, single submitter clinical testing

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