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

dbSNP: rs1654085401

Total submissions: 5

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	2024-03-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001261622	SCV004809531	likely pathogenic	Pyknodysostosis	2024-04-04	criteria provided, single submitter	clinical testing