ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr)

gnomAD frequency: 0.00001  dbSNP: rs1188206999
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001095777 SCV001251623 uncertain significance Kabuki syndrome 1 2020-01-10 criteria provided, single submitter clinical testing The KMT2D c.14057A>C (p.Asn4686Thr) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000039 in the Latino population from the Genome Aggregation Database, though this is based on one allele in a region of good sequencing coverage so the variant is presumed to be rare. The p.Asn4686Thr variant occurs at a conserved residue and in silico predictions suggest a damaging effect, however this has not been evaluated experimentally. Based on the limited evidence, the p.Asn4686Thr variant is classified as a variant of unknown significance for Kabuki syndrome.
GeneDx RCV001759864 SCV001987977 uncertain significance not provided 2020-11-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002554883 SCV003533583 uncertain significance Inborn genetic diseases 2020-11-02 criteria provided, single submitter clinical testing The c.14057A>C (p.N4686T) alteration is located in exon 43 (coding exon 43) of the KMT2D gene. This alteration results from a A to C substitution at nucleotide position 14057, causing the asparagine (N) at amino acid position 4686 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV003769039 SCV004679057 likely benign Kabuki syndrome 2023-05-05 criteria provided, single submitter clinical testing

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