ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1253C>T (p.Ala418Val)

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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 RCV005380767 SCV006038164 uncertain significance Inborn genetic diseases 2025-02-19 criteria provided, single submitter clinical testing The c.1253C>T (p.A418V) alteration is located in exon 7 (coding exon 7) of the MTO1 gene. This alteration results from a C to T substitution at nucleotide position 1253, causing the alanine (A) at amino acid position 418 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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