ClinVar Miner

Submissions for variant NM_002336.3(LRP6):c.752A>G (p.Asn251Ser)

gnomAD frequency: 0.00029  dbSNP: rs144346961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907420 SCV001052124 likely benign not provided 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003259013 SCV003949792 uncertain significance Inborn genetic diseases 2023-05-09 criteria provided, single submitter clinical testing The c.752A>G (p.N251S) alteration is located in exon 4 (coding exon 4) of the LRP6 gene. This alteration results from a A to G substitution at nucleotide position 752, causing the asparagine (N) at amino acid position 251 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003923094 SCV004738670 benign LRP6-related disorder 2019-09-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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