ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.2478_2485dup (p.Ser829fs)

dbSNP: rs863224951
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003546493 SCV004272855 uncertain significance not provided 2024-01-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser829Trpfs*9) in the A2ML1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in A2ML1 cause disease. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with otitis media (PMID: 26121085). ClinVar contains an entry for this variant (Variation ID: 217306). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Department of Molecular and Human Genetics, Baylor College of Medicine RCV000201239 SCV000255632 pathogenic Nonsyndromic otitis media 2014-05-28 no assertion criteria provided research
OMIM RCV000660876 SCV000783113 risk factor Otitis media, susceptibility to 2018-07-06 no assertion criteria provided literature only

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