ClinVar Miner

Submissions for variant NM_005144.5(HR):c.1369A>G (p.Lys457Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005001713 SCV005626880 uncertain significance not provided 2024-07-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV005353370 SCV006013307 uncertain significance Inborn genetic diseases 2025-02-12 criteria provided, single submitter clinical testing The c.1369A>G (p.K457E) alteration is located in exon 3 (coding exon 2) of the HR gene. This alteration results from a A to G substitution at nucleotide position 1369, causing the lysine (K) at amino acid position 457 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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