ClinVar Miner

Submissions for variant NM_016034.5(MRPS2):c.140T>A (p.Leu47His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004248635 SCV003864130 uncertain significance not specified 2023-01-26 criteria provided, single submitter clinical testing The c.140T>A (p.L47H) alteration is located in exon 2 (coding exon 2) of the MRPS2 gene. This alteration results from a T to A substitution at nucleotide position 140, causing the leucine (L) at amino acid position 47 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003689054 SCV004449945 likely benign not provided 2022-12-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003906668 SCV004718383 likely benign MRPS2-related disorder 2022-12-12 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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