ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1042C>T (p.Arg348Cys)

gnomAD frequency: 0.00001  dbSNP: rs746039927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002078468 SCV002373917 likely benign Kabuki syndrome 2023-02-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151384 SCV003839661 likely benign not specified 2022-06-21 no assertion criteria provided clinical testing DNA sequence analysis of the KMT2D gene demonstrated a sequence change, c.1042C>T, in exon 8 that results in an amino acid change, p.Arg348Cys. This sequence change has been described in the gnomAD database with a frequency of 0.036% in the South Asian subpopulation (dbSNP rs746039927). The p.Arg348Cys change affects a poorly conserved amino acid residue located in a domain of the KMT2D protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Arg348Cys substitution. This sequence change does not appear to have been previously described in individuals with KMT2D-related disorders. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Arg348Cys change remains unknown at this time.

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