ClinVar Miner

Submissions for variant NM_003480.4(MFAP5):c.2T>C (p.Met1Thr)

dbSNP: rs1942169361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336040 SCV001529320 pathogenic Aortic aneurysm, familial thoracic 9 2018-06-25 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003698864 SCV004471455 uncertain significance not provided 2023-01-14 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the MFAP5 mRNA. The next in-frame methionine is located at codon 116. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1033583). This variant has not been reported in the literature in individuals affected with MFAP5-related conditions. This variant is not present in population databases (gnomAD no frequency).

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