ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.2100del (p.Gly701fs)

dbSNP: rs2144601728
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Dr. Eberhard & Partner Dortmund RCV002222319 SCV002499741 likely pathogenic not provided 2021-07-20 criteria provided, single submitter clinical testing This sequence change is likely causing a frameshift that results in a premature STOP codon. It is predicted to cause loss of function due to nonsense mediated decay (NMD), which is a known mechanism of disease in SLC4A1 associated with spherocytosis. The variant has not been reported in literature so far and is not present in controls from the Exome Sequencing Project, 1000 Genomes Project and the Genome Aggregation Database. This variant is considered to be likely pathogenic according to the ACMG guidelines.

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