ClinVar Miner

Submissions for variant NM_003859.3(DPM1):c.166A>G (p.Ile56Val)

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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 RCV004974561 SCV005574061 uncertain significance Inborn genetic diseases 2024-07-30 criteria provided, single submitter clinical testing The c.166A>G (p.I56V) alteration is located in exon 2 (coding exon 2) of the DPM1 gene. This alteration results from a A to G substitution at nucleotide position 166, causing the isoleucine (I) at amino acid position 56 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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