ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu)

dbSNP: rs973578825
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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 RCV002537750 SCV003636442 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.1340C>T (p.S447L) alteration is located in exon 7 (coding exon 4) of the HLCS gene. This alteration results from a C to T substitution at nucleotide position 1340, causing the serine (S) at amino acid position 447 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277484 SCV001464439 uncertain significance Holocarboxylase synthetase deficiency 2020-08-15 no assertion criteria provided clinical testing

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