ClinVar Miner

Submissions for variant NM_020921.4(NIN):c.1408C>T (p.Arg470Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003116820 SCV003795493 likely benign not provided 2024-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004245950 SCV004991227 uncertain significance not specified 2023-09-29 criteria provided, single submitter clinical testing The c.1408C>T (p.R470W) alteration is located in exon 12 (coding exon 10) of the NIN gene. This alteration results from a C to T substitution at nucleotide position 1408, causing the arginine (R) at amino acid position 470 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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