ClinVar Miner

Submissions for variant NM_001395333.1(MTCL1):c.4304G>A (p.Arg1435His)

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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 RCV002783401 SCV003592064 uncertain significance Inborn genetic diseases 2024-10-22 criteria provided, single submitter clinical testing The c.3224G>A (p.R1075H) alteration is located in exon 15 (coding exon 13) of the MTCL1 gene. This alteration results from a G to A substitution at nucleotide position 3224, causing the arginine (R) at amino acid position 1075 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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