ClinVar Miner

Submissions for variant NM_017649.5(CNNM2):c.2318C>T (p.Pro773Leu)

dbSNP: rs1057524606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444760 SCV000536039 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing The P773L variant in the CNNM2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P773L variant was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P773L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P773L as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002481346 SCV002786014 uncertain significance Renal hypomagnesemia 6; Hypomagnesemia, seizures, and intellectual disability 1 2021-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525507 SCV003591028 uncertain significance Inborn genetic diseases 2024-09-27 criteria provided, single submitter clinical testing The c.2318C>T (p.P773L) alteration is located in exon 7 (coding exon 7) of the CNNM2 gene. This alteration results from a C to T substitution at nucleotide position 2318, causing the proline (P) at amino acid position 773 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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