ClinVar Miner

Submissions for variant NM_014927.5(CNKSR2):c.2723C>T (p.Ser908Leu)

gnomAD frequency: 0.00004  dbSNP: rs1159715093
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001337268 SCV001530864 uncertain significance not provided 2018-06-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not available"; PolyPhen-2: "Benign"; Align-GVGD: "Not available"). This variant has not been reported in the literature in individuals with CNKSR2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 908 of the CNKSR2 protein (p.Ser908Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226779 SCV002505892 uncertain significance Intellectual disability, X-linked, syndromic, Houge type 2021-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978355 SCV005556973 uncertain significance Inborn genetic diseases 2024-07-26 criteria provided, single submitter clinical testing The c.2723C>T (p.S908L) alteration is located in exon 21 (coding exon 21) of the CNKSR2 gene. This alteration results from a C to T substitution at nucleotide position 2723, causing the serine (S) at amino acid position 908 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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