ClinVar Miner

Submissions for variant NM_000427.3(LORICRIN):c.272C>G (p.Ser91Cys)

dbSNP: rs533773105
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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 RCV001310541 SCV001500388 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034233 SCV004897273 uncertain significance not specified 2022-12-13 criteria provided, single submitter clinical testing The c.272C>G (p.S91C) alteration is located in exon 2 (coding exon 1) of the LOR gene. This alteration results from a C to G substitution at nucleotide position 272, causing the serine (S) at amino acid position 91 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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