ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.13880C>T (p.Ser4627Leu)

dbSNP: rs191145030
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002136276 SCV002467647 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134395 SCV003812742 uncertain significance Donnai-Barrow syndrome 2021-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046996 SCV004897462 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.13880C>T (p.S4627L) alteration is located in exon 79 (coding exon 79) of the LRP2 gene. This alteration results from a C to T substitution at nucleotide position 13880, causing the serine (S) at amino acid position 4627 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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