ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.6220C>A (p.Gln2074Lys)

dbSNP: rs200822474
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001099622 SCV001256094 uncertain significance Age related macular degeneration 1 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001856351 SCV002206810 uncertain significance not provided 2023-11-18 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 2074 of the HMCN1 protein (p.Gln2074Lys). This variant is present in population databases (rs200822474, gnomAD 0.02%). 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: 875608). 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 RCV004032052 SCV003863971 uncertain significance not specified 2023-02-16 criteria provided, single submitter clinical testing The c.6220C>A (p.Q2074K) alteration is located in exon 40 (coding exon 40) of the HMCN1 gene. This alteration results from a C to A substitution at nucleotide position 6220, causing the glutamine (Q) at amino acid position 2074 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001099622 SCV004179795 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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