ClinVar Miner

Submissions for variant NM_022915.5(MRPL44):c.244A>G (p.Asn82Asp)

gnomAD frequency: 0.00094  dbSNP: rs113782060
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000677003 SCV002487003 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531382 SCV003529032 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.244A>G (p.N82D) alteration is located in exon 2 (coding exon 2) of the MRPL44 gene. This alteration results from a A to G substitution at nucleotide position 244, causing the asparagine (N) at amino acid position 82 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000677003 SCV005242705 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000677003 SCV000802832 uncertain significance not provided 2016-02-26 no assertion criteria provided clinical testing

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