ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4100C>A (p.Pro1367His)

dbSNP: rs2034854003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774569 SCV002002032 uncertain significance not provided 2024-12-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004681247 SCV005181354 uncertain significance Inborn genetic diseases 2024-04-22 criteria provided, single submitter clinical testing The c.4100C>A (p.P1367H) alteration is located in exon 19 (coding exon 18) of the USH2A gene. This alteration results from a C to A substitution at nucleotide position 4100, causing the proline (P) at amino acid position 1367 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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