ClinVar Miner

Submissions for variant NM_023936.2(MRPS34):c.436G>C (p.Glu146Gln)

gnomAD frequency: 0.00364  dbSNP: rs139953295
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002081250 SCV002378663 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002081250 SCV002497850 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing MRPS34: BP4, BS2
Ambry Genetics RCV003007037 SCV003539924 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.436G>C (p.E146Q) alteration is located in exon 3 (coding exon 3) of the MRPS34 gene. This alteration results from a G to C substitution at nucleotide position 436, causing the glutamic acid (E) at amino acid position 146 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV002081250 SCV005216933 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003911327 SCV004723424 likely benign MRPS34-related disorder 2019-07-30 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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