ClinVar Miner

Submissions for variant NM_025176.6(NINL):c.652G>C (p.Glu218Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004079932 SCV003539277 uncertain significance not specified 2021-09-01 criteria provided, single submitter clinical testing The c.652G>C (p.E218Q) alteration is located in exon 6 (coding exon 5) of the NINL gene. This alteration results from a G to C substitution at nucleotide position 652, causing the glutamic acid (E) at amino acid position 218 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003906572 SCV004724804 likely benign NINL-related disorder 2022-02-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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