ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.14012A>G (p.Asn4671Ser)

gnomAD frequency: 0.00001  dbSNP: rs374739089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757308 SCV002007441 uncertain significance not provided 2019-10-29 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002544164 SCV003621099 uncertain significance Inborn genetic diseases 2024-12-23 criteria provided, single submitter clinical testing The c.14012A>G (p.N4671S) alteration is located in exon 76 (coding exon 75) of the HERC1 gene. This alteration results from a A to G substitution at nucleotide position 14012, causing the asparagine (N) at amino acid position 4671 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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