ClinVar Miner

Submissions for variant NM_138704.4(NSMCE3):c.42G>C (p.Gln14His)

gnomAD frequency: 0.00080  dbSNP: rs547945176
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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 RCV004185972 SCV003683338 uncertain significance not specified 2023-12-18 criteria provided, single submitter clinical testing The c.42G>C (p.Q14H) alteration is located in exon 1 (coding exon 1) of the NSMCE3 gene. This alteration results from a G to C substitution at nucleotide position 42, causing the glutamine (Q) at amino acid position 14 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003936661 SCV004750057 likely benign NSMCE3-related disorder 2023-11-22 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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