ClinVar Miner

Submissions for variant NM_003105.6(SORL1):c.1165G>T (p.Val389Leu)

gnomAD frequency: 0.00016  dbSNP: rs374928025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000943228 SCV001089171 likely benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029738 SCV003717432 uncertain significance not specified 2021-07-06 criteria provided, single submitter clinical testing The c.1165G>T (p.V389L) alteration is located in exon 8 (coding exon 8) of the SORL1 gene. This alteration results from a G to T substitution at nucleotide position 1165, causing the valine (V) at amino acid position 389 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000943228 SCV005217103 likely benign not provided criteria provided, single submitter not provided

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