ClinVar Miner

Submissions for variant NM_012156.2(EPB41L1):c.1772C>T (p.Thr591Met)

gnomAD frequency: 0.00004  dbSNP: rs375302378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194355 SCV000247305 uncertain significance not specified 2014-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000194355 SCV003738733 uncertain significance not specified 2021-12-13 criteria provided, single submitter clinical testing The c.1772C>T (p.T591M) alteration is located in exon 15 (coding exon 14) of the EPB41L1 gene. This alteration results from a C to T substitution at nucleotide position 1772, causing the threonine (T) at amino acid position 591 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003430741 SCV004152682 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing EPB41L1: BP4, BS2

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