ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.15109T>C (p.Tyr5037His)

gnomAD frequency: 0.00014  dbSNP: rs41317505
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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 RCV001897628 SCV002150483 uncertain significance not provided 2023-09-17 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 5037 of the HMCN1 protein (p.Tyr5037His). This variant is present in population databases (rs41317505, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1382375). 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 RCV004041261 SCV003719514 uncertain significance not specified 2021-09-01 criteria provided, single submitter clinical testing The c.15109T>C (p.Y5037H) alteration is located in exon 97 (coding exon 97) of the HMCN1 gene. This alteration results from a T to C substitution at nucleotide position 15109, causing the tyrosine (Y) at amino acid position 5037 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003452051 SCV004180619 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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