ClinVar Miner

Submissions for variant NM_013247.5(HTRA2):c.67A>G (p.Ile23Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005241895 SCV005889231 uncertain significance not provided 2024-09-11 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 RCV005353468 SCV006009442 uncertain significance Inborn genetic diseases 2024-12-12 criteria provided, single submitter clinical testing The c.67A>G (p.I23V) alteration is located in exon 1 (coding exon 1) of the HTRA2 gene. This alteration results from a A to G substitution at nucleotide position 67, causing the isoleucine (I) at amino acid position 23 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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