ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.145G>C (p.Val49Leu)

dbSNP: rs1463935788
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen RCV000815145 SCV002600173 uncertain significance Creatine transporter deficiency 2022-06-06 reviewed by expert panel curation The NM_005629.4(SLC6A8):c.145G>C (p.Val49Leu) variant in SLC6A8 is a missense variant predicted to cause substitution of Valine for Leucine at amino acid 49 (p.Val49Leu). This variant is absent from gnomAD v2.1.1, therefore PM2_Supporting criteria is applicable. The computational predictor REVEL gives a score of 0.032 which is below the threshold of 0.25, and does not predict a damaging effect on SLC6A8 function, and SpliceAI does no predict an impact on splicing (BP4). This variant has not been previously reported in affected individuals in the literature. There is a ClinVar entry for this variant (Variation ID:658337). In summary, this variant meets the criteria to be classified as a Variant of Uncertain Significance for Creatine Transporter Deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel (Specifications Version 1.1.0): PM2_Supporting, BP4. (Classification approved by the ClinGen CCDS VCEP on June 6, 2022).
Labcorp Genetics (formerly Invitae), Labcorp RCV000815145 SCV000955591 uncertain significance Creatine transporter deficiency 2021-08-24 criteria provided, single submitter clinical testing

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