ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.9157T>C (p.Tyr3053His)

gnomAD frequency: 0.00001  dbSNP: rs375407833
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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 RCV002004175 SCV002287771 uncertain significance not provided 2022-07-25 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1505671). This variant is present in population databases (rs375407833, gnomAD 0.03%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 3053 of the HMCN1 protein (p.Tyr3053His).
Ambry Genetics RCV004046155 SCV003618631 uncertain significance not specified 2021-12-17 criteria provided, single submitter clinical testing The c.9157T>C (p.Y3053H) alteration is located in exon 59 (coding exon 59) of the HMCN1 gene. This alteration results from a T to C substitution at nucleotide position 9157, causing the tyrosine (Y) at amino acid position 3053 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003453953 SCV004179853 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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