ClinVar Miner

Submissions for variant NM_016240.3(SCARA3):c.83C>T (p.Pro28Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004186390 SCV003680278 uncertain significance not specified 2022-09-22 criteria provided, single submitter clinical testing The c.83C>T (p.P28L) alteration is located in exon 2 (coding exon 2) of the SCARA3 gene. This alteration results from a C to T substitution at nucleotide position 83, causing the proline (P) at amino acid position 28 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003900906 SCV004713495 likely benign SCARA3-related disorder 2023-07-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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