ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2105C>T (p.Pro702Leu)

gnomAD frequency: 0.00008  dbSNP: rs776471315
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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 RCV000559807 SCV000657666 uncertain significance Charcot-Marie-Tooth disease type 2 2024-07-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 702 of the AARS protein (p.Pro702Leu). This variant is present in population databases (rs776471315, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with AARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 476738). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004024371 SCV004916417 uncertain significance Inborn genetic diseases 2024-03-07 criteria provided, single submitter clinical testing The c.2105C>T (p.P702L) alteration is located in exon 15 (coding exon 14) of the AARS gene. This alteration results from a C to T substitution at nucleotide position 2105, causing the proline (P) at amino acid position 702 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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