ClinVar Miner

Submissions for variant NM_017613.4(DONSON):c.44C>T (p.Pro15Leu)

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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 RCV005331933 SCV005996874 uncertain significance Inborn genetic diseases 2025-02-22 criteria provided, single submitter clinical testing The c.44C>T (p.P15L) alteration is located in exon 1 (coding exon 1) of the DONSON gene. This alteration results from a C to T substitution at nucleotide position 44, causing the proline (P) at amino acid position 15 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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