ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.7677G>C (p.Lys2559Asn)

gnomAD frequency: 0.00016  dbSNP: rs139899015
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001101697 SCV001258328 uncertain significance Age related macular degeneration 1 2017-10-14 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001856380 SCV002132555 uncertain significance not provided 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 2559 of the HMCN1 protein (p.Lys2559Asn). This variant is present in population databases (rs139899015, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with sporadic macular dystrophy (PMID: 27007659). ClinVar contains an entry for this variant (Variation ID: 876653). 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.
Genome-Nilou Lab RCV001101697 SCV004179824 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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