ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.2426C>T (p.Ser809Phe)

gnomAD frequency: 0.00002  dbSNP: rs374005016
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001541465 SCV001759466 likely benign not provided 2024-08-02 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV001541465 SCV002113626 uncertain significance not provided 2024-12-23 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 809 of the KMT2A protein (p.Ser809Phe). This variant is present in population databases (rs374005016, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with KMT2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1183591). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt KMT2A protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV002568253 SCV003689304 uncertain significance Inborn genetic diseases 2021-04-17 criteria provided, single submitter clinical testing The c.2426C>T (p.S809F) alteration is located in exon 3 (coding exon 3) of the KMT2A gene. This alteration results from a C to T substitution at nucleotide position 2426, causing the serine (S) at amino acid position 809 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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