ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.4134T>A (p.His1378Gln)

gnomAD frequency: 0.00001  dbSNP: rs763442262
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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 RCV001360031 SCV001555924 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2021-12-18 criteria provided, single submitter clinical testing 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. 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1051929). This variant has not been reported in the literature in individuals affected with LRP4-related conditions. This variant is present in population databases (rs763442262, gnomAD 0.03%). This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1378 of the LRP4 protein (p.His1378Gln).
Ambry Genetics RCV003355429 SCV004056034 uncertain significance Inborn genetic diseases 2023-06-28 criteria provided, single submitter clinical testing The c.4134T>A (p.H1378Q) alteration is located in exon 28 (coding exon 28) of the LRP4 gene. This alteration results from a T to A substitution at nucleotide position 4134, causing the histidine (H) at amino acid position 1378 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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