ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.7156A>G (p.Ile2386Val)

gnomAD frequency: 0.00001  dbSNP: rs1167111929
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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 RCV001863662 SCV002123427 uncertain significance not provided 2023-08-10 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. 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. ClinVar contains an entry for this variant (Variation ID: 1353902). This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2386 of the HMCN1 protein (p.Ile2386Val).
Ambry Genetics RCV004038976 SCV003709949 uncertain significance not specified 2022-11-21 criteria provided, single submitter clinical testing The c.7156A>G (p.I2386V) alteration is located in exon 46 (coding exon 46) of the HMCN1 gene. This alteration results from a A to G substitution at nucleotide position 7156, causing the isoleucine (I) at amino acid position 2386 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003451988 SCV004179812 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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