ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.16526G>A (p.Arg5509Gln)

gnomAD frequency: 0.00010  dbSNP: rs140641844
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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 RCV001903311 SCV002161458 uncertain significance not provided 2024-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 5509 of the HMCN1 protein (p.Arg5509Gln). This variant is present in population databases (rs140641844, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1397056). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV004041618 SCV003562501 uncertain significance not specified 2022-03-23 criteria provided, single submitter clinical testing The c.16526G>A (p.R5509Q) alteration is located in exon 106 (coding exon 106) of the HMCN1 gene. This alteration results from a G to A substitution at nucleotide position 16526, causing the arginine (R) at amino acid position 5509 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003452087 SCV004180651 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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