ClinVar Miner

Submissions for variant NM_022144.3(TNMD):c.112A>G (p.Ile38Val)

gnomAD frequency: 0.00136  dbSNP: rs141371868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953622 SCV001100201 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029848 SCV003684568 uncertain significance not specified 2021-11-03 criteria provided, single submitter clinical testing The c.112A>G (p.I38V) alteration is located in exon 2 (coding exon 2) of the TNMD gene. This alteration results from a A to G substitution at nucleotide position 112, causing the isoleucine (I) at amino acid position 38 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000953622 SCV005210709 likely benign not provided criteria provided, single submitter not provided

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