ClinVar Miner

Submissions for variant NM_005932.4(MIPEP):c.1924G>A (p.Ala642Thr)

gnomAD frequency: 0.00031  dbSNP: rs141693205
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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 RCV000935631 SCV001081383 benign not provided 2023-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544499 SCV003612187 likely benign Inborn genetic diseases 2021-07-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000935631 SCV004698583 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing MIPEP: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000935631 SCV005230857 benign not provided criteria provided, single submitter not provided

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