ClinVar Miner

Submissions for variant NM_002336.3(LRP6):c.4062G>C (p.Lys1354Asn)

gnomAD frequency: 0.00025  dbSNP: rs145431655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002958809 SCV003279343 benign not provided 2024-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004068203 SCV004899380 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.4062G>C (p.K1354N) alteration is located in exon 19 (coding exon 19) of the LRP6 gene. This alteration results from a G to C substitution at nucleotide position 4062, causing the lysine (K) at amino acid position 1354 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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