ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.5241G>T (p.Met1747Ile)

gnomAD frequency: 0.00001  dbSNP: rs766434071
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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 RCV002004864 SCV002235236 uncertain significance not provided 2024-09-28 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1747 of the HMCN1 protein (p.Met1747Ile). This variant is present in population databases (rs766434071, gnomAD 0.006%). This missense change has been observed in individuals with clinical features of autosomal dominant inherited retinal dystrophy (internal data). ClinVar contains an entry for this variant (Variation ID: 1450506). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Probably Damaging". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004043960 SCV003549390 uncertain significance not specified 2021-09-01 criteria provided, single submitter clinical testing The c.5241G>T (p.M1747I) alteration is located in exon 33 (coding exon 33) of the HMCN1 gene. This alteration results from a G to T substitution at nucleotide position 5241, causing the methionine (M) at amino acid position 1747 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003453841 SCV004179784 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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