ClinVar Miner

Submissions for variant NM_000427.3(LORICRIN):c.763G>T (p.Gly255Cys)

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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 RCV003409041 SCV004124828 benign not provided 2022-12-01 criteria provided, single submitter clinical testing LORICRIN: BP4, BS1, BS2
Ambry Genetics RCV004364481 SCV004897285 uncertain significance not specified 2022-04-25 criteria provided, single submitter clinical testing The c.763G>T (p.G255C) alteration is located in exon 2 (coding exon 1) of the LOR gene. This alteration results from a G to T substitution at nucleotide position 763, causing the glycine (G) at amino acid position 255 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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