ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.15746G>A (p.Arg5249His)

gnomAD frequency: 0.00003  dbSNP: rs766387783
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512711 SCV000608503 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000512711 SCV003498745 uncertain significance not provided 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 5249 of the HMCN1 protein (p.Arg5249His). This variant is present in population databases (rs766387783, gnomAD 0.008%). 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: 444187). 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 RCV004023455 SCV003703892 uncertain significance not specified 2021-10-19 criteria provided, single submitter clinical testing The c.15746G>A (p.R5249H) alteration is located in exon 102 (coding exon 102) of the HMCN1 gene. This alteration results from a G to A substitution at nucleotide position 15746, causing the arginine (R) at amino acid position 5249 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003449455 SCV004180639 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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