ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.2261T>G (p.Leu754Trp)

gnomAD frequency: 0.00001  dbSNP: rs1046849931
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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 RCV001984614 SCV002214005 uncertain significance not provided 2024-11-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 754 of the HMCN1 protein (p.Leu754Trp). This variant is present in population databases (no rsID available, gnomAD 0.03%). This missense change has been observed in individuals with clinical features of retinitis pigmentosa (internal data). ClinVar contains an entry for this variant (Variation ID: 1434336). 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 RCV004042131 SCV003739045 uncertain significance not specified 2021-07-15 criteria provided, single submitter clinical testing The c.2261T>G (p.L754W) alteration is located in exon 15 (coding exon 15) of the HMCN1 gene. This alteration results from a T to G substitution at nucleotide position 2261, causing the leucine (L) at amino acid position 754 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003456263 SCV004179740 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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