ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.8110A>G (p.Ile2704Val)

gnomAD frequency: 0.00020  dbSNP: rs192917180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002932426 SCV003260146 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2704 of the HERC1 protein (p.Ile2704Val). This variant is present in population databases (rs192917180, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with HERC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2052044). 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 tolerated. 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 RCV002932427 SCV003663156 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.8110A>G (p.I2704V) alteration is located in exon 40 (coding exon 39) of the HERC1 gene. This alteration results from a A to G substitution at nucleotide position 8110, causing the isoleucine (I) at amino acid position 2704 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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