ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.5540C>T (p.Thr1847Met)

gnomAD frequency: 0.00004  dbSNP: rs375391856
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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 RCV001036757 SCV001200137 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-01-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1847 of the LRP4 protein (p.Thr1847Met). This variant is present in population databases (rs375391856, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with LRP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 835789). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002551365 SCV003527035 uncertain significance Inborn genetic diseases 2022-10-03 criteria provided, single submitter clinical testing The c.5540C>T (p.T1847M) alteration is located in exon 38 (coding exon 38) of the LRP4 gene. This alteration results from a C to T substitution at nucleotide position 5540, causing the threonine (T) at amino acid position 1847 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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