ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.3143C>T (p.Pro1048Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002284704 SCV002574262 uncertain significance not provided 2022-03-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003269158 SCV003972527 uncertain significance Inborn genetic diseases 2023-04-28 criteria provided, single submitter clinical testing The c.3143C>T (p.P1048L) alteration is located in exon 10 (coding exon 10) of the CRB2 gene. This alteration results from a C to T substitution at nucleotide position 3143, causing the proline (P) at amino acid position 1048 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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