ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr) (rs141340466)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057120 SCV001221596 uncertain significance Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 393 of the MARS protein (p.Ala393Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs141340466, ExAC 0.2%). This variant has been observed in the homozygous state in several individuals affected with clinical features of interstitial lung and liver disease. However these individuals were also homozygous for a second MARS variant (p.Ser567Leu) (PMID: 25913036). ClinVar contains an entry for this variant (Variation ID: 189364). This variant has been reported not to substantially affect MARS protein function (PMID: 29775242, 25913036). 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.

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