ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.909C>G (p.Asn303Lys)

gnomAD frequency: 0.00002  dbSNP: rs373551790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728388 SCV000855955 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985099 SCV005612842 uncertain significance Inborn genetic diseases 2024-08-19 criteria provided, single submitter clinical testing The c.909C>G (p.N303K) alteration is located in exon 8 (coding exon 8) of the LRP4 gene. This alteration results from a C to G substitution at nucleotide position 909, causing the asparagine (N) at amino acid position 303 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005049675 SCV005684017 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-04-29 criteria provided, single submitter clinical testing

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