ClinVar Miner

Submissions for variant NM_006774.5(INMT):c.409C>T (p.Arg137Trp)

gnomAD frequency: 0.00001  dbSNP: rs757254092
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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 RCV004297606 SCV003954131 uncertain significance not specified 2023-05-09 criteria provided, single submitter clinical testing The c.409C>T (p.R137W) alteration is located in exon 3 (coding exon 3) of the INMT gene. This alteration results from a C to T substitution at nucleotide position 409, causing the arginine (R) at amino acid position 137 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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