ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.14918A>T (p.His4973Leu)

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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 RCV002590497 SCV002957623 uncertain significance not provided 2022-08-07 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 4973 of the HMCN1 protein (p.His4973Leu).
Ambry Genetics RCV004065663 SCV004090838 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing The c.14918A>T (p.H4973L) alteration is located in exon 96 (coding exon 96) of the HMCN1 gene. This alteration results from a A to T substitution at nucleotide position 14918, causing the histidine (H) at amino acid position 4973 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003456294 SCV004180609 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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