ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.344A>G (p.Asp115Gly)

dbSNP: rs386134192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022317 SCV000791539 uncertain significance Renal carnitine transport defect 2017-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000022317 SCV001413868 uncertain significance Renal carnitine transport defect 2019-10-14 criteria provided, single submitter clinical testing 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. This variant has been reported to affect SLC22A5 protein function (PMID: 28841266). This variant has been observed in the homozygous state in an individual affected with primary carnitine deficiency; however, this individual was also found to have a second homozygous variant in the SLC22A5 gene (PMID: 28841266). ClinVar contains an entry for this variant (Variation ID: 25370). This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glycine at codon 115 of the SLC22A5 protein (p.Asp115Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine.
Genome-Nilou Lab RCV000022317 SCV002055845 uncertain significance Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing

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