ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.989C>T (p.Ser330Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004411921 SCV004896628 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.989C>T (p.S330L) alteration is located in exon 8 (coding exon 8) of the KMT2D gene. This alteration results from a C to T substitution at nucleotide position 989, causing the serine (S) at amino acid position 330 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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