ClinVar Miner

Submissions for variant NM_012156.2(EPB41L1):c.1394G>A (p.Arg465Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003886192 SCV004700701 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing EPB41L1: BP4
Ambry Genetics RCV004917900 SCV005574413 uncertain significance not specified 2024-08-01 criteria provided, single submitter clinical testing The c.1394G>A (p.R465Q) alteration is located in exon 12 (coding exon 11) of the EPB41L1 gene. This alteration results from a G to A substitution at nucleotide position 1394, causing the arginine (R) at amino acid position 465 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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