ClinVar Miner

Submissions for variant NM_006459.4(ERLIN1):c.893A>G (p.Tyr298Cys)

gnomAD frequency: 0.00001  dbSNP: rs756772947
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848430 SCV002104658 uncertain significance Hereditary spastic paraplegia 2018-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038701 SCV004864673 uncertain significance not specified 2024-01-02 criteria provided, single submitter clinical testing The c.893A>G (p.Y298C) alteration is located in exon 11 (coding exon 11) of the ERLIN1 gene. This alteration results from a A to G substitution at nucleotide position 893, causing the tyrosine (Y) at amino acid position 298 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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