ClinVar Miner

Submissions for variant NM_003105.6(SORL1):c.5665A>C (p.Thr1889Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003090929 SCV003469737 likely benign not provided 2022-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004071812 SCV003969780 uncertain significance not specified 2023-04-18 criteria provided, single submitter clinical testing The c.5665A>C (p.T1889P) alteration is located in exon 42 (coding exon 42) of the SORL1 gene. This alteration results from a A to C substitution at nucleotide position 5665, causing the threonine (T) at amino acid position 1889 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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