ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.14952G>C (p.Leu4984Phe)

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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 RCV003070901 SCV003446109 uncertain significance not provided 2023-06-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. 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: 2139722). This variant is present in population databases (rs61749581, gnomAD 0.005%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 4984 of the HMCN1 protein (p.Leu4984Phe).
Ambry Genetics RCV004070200 SCV003879990 uncertain significance not specified 2023-02-15 criteria provided, single submitter clinical testing The c.14952G>C (p.L4984F) alteration is located in exon 96 (coding exon 96) of the HMCN1 gene. This alteration results from a G to C substitution at nucleotide position 14952, causing the leucine (L) at amino acid position 4984 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003456303 SCV004180611 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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